- Feb 2025
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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CLEC4M(rs753084254):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.
CLEC4M(rs113080783):c.A>G, noted as missense protein effect and VarSome classifies it as a VUS.
CLEC4M(rs62623420):c.A>G,noted as Splice acceptor protein effect and VarSome classifies it as a VUS.
CLEC4M(rs868878):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.
CLEC4M(rs2277998):c.G>A, noted as missense protein effect and VarSome classifies it as Benign
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TC2N(rs756737332):c.C>T, noted as missense protein effect and VarSome classifies it as a VUS.
TC2N(rs144110131):c.T>G, noted as missense protein effect and VarSome classifies it as a VUS.
TC2N(rs2402073):c.G>T, noted as missense protein effect and VarSome classifies it as Benign
TC2N(rs2402073):c.G>A,noted as missense protein effect and VarSome classifies it as Likely Benign
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STX2(rs145834567):c.T>C, noted as missense protein effect and Varsome classifies it as a VUS.
STX2(rs137928907):c.A>C, noted as missense protein effect and Varsome classifies it as a VUS.
STX2(rs17564):c.G>C, noted as missense protein effect and Varsome classifies it as Benign.
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SCARA5(rs17058374):c.C>T, noted as missense protein effect and VarSome classifies it as Likely Benign.
SCARA5(rs61737292):c.G>A, noted as missense protein effect and VarSome classifies it as Benign.
SCARA5(rs148420420):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.
SCARA5(rs61737296):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign.
SCARA5(rs118119884):c.G>A, noted as missense protein effect and VarSome classifies it as Benign.
SCARA5(rs6983356):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.
SCARA5(rs17058207):c.C>G, noted as missense protein effect and VarSome classifies it as Benign.
SCARA5(rs61737291):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.
SCARA5(rs4732610):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.
SCARA5(rs10103504):c.T>C, noted as synonymous protein effect and VarSome classifies it as Benign.
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STAB2(rs760013563):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS
STAB2(rs377067548):c.C>G, noted as synonymous protein effect and VarSome classifies it as a VUS
STAB2(rs377011398):c.G>A, noted as missense protein effect and VarSome classifies it as a VUS
STAB2(12:104067708):c.T>C, noted as missense protein effect and VarSome classifies it as a VUS
STAB2(rs766516074):c.G>C, noted as missense protein effect and VarSome classifies it as Likely Benign
STAB2(rs189453513):c.C>G, noted as synonymous protein effect and VarSome classifies it as Likely Benign
STAB2(rs142351376):c.C>T, noted as missense protein effect and VarSome classifies it as Likely Benign
STAB2(rs151219602):c. C>T, noted as synonymous protein effect and VarSome classifies it as Likely Benign
STAB2(rs149382223):c.T>C, noted as missense protein effect and VarSome classifies it as Likely Benign
STAB2(rs2271636):c.G>T, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs2271638):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs34699746):c.C>T, noted as synonymous protein effect and VarSome classifies it as Likely Benign
STAB2(rs147053330):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign
STAB2(rs149524008):c.G>T, noted as missense protein effect and VarSome classifies it as Likely Benign
STAB2(rs116894406):c.G>A, noted as missense protein effect and VarSome classifies it as Likely Benign
STAB2(rs148397037):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign
STAB2(rs17034336):c.G>A, noted as missense protein effect and VarSome classifies it as Benign
STAB2(rs7973658):c.G>A, noted as missense protein effect and VarSome classifies it as Benign
STAB2(rs17034433):c.A>C, noted as missense protein effect and VarSome classifies it as Benign
STAB2(rs35102665):c.G>A, noted as synonymous protein effect and VarSome classifies it as Likely Benign
STAB2(rs7306642):c.C>A, noted as missense protein effect and VarSome classifies it as Benign
STAB2(rs1609860):c.C>A, noted as missense protein effect and VarSome classifies it as Benign
STAB2(rs2292688):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs10778281):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs2271637):c.C>G, noted as missense protein effect and VarSome classifies it as Benign
STAB2(rs697210):c.T>C, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs11614418):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs703651):c.C>T, noted as synonymous protein effect and VarSome classifies it as Benign
STAB2(rs697212):c.T>C, noted as synonymous protein effect and VarSome classifies it as Benign
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Variants identified in Swedish VWD patients
ABO(rs139670895):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.
ABO(rs8176751):c.C>T, noted as sysnonymous protein effect and VarSome classifies as Benign
ABO(rs56392308):c.-/GG, noted as frameshift in protein effect and VarSome classifies as Benign
ABO(rs8176749):c.C>T, noted as synonymous in protein effect and VarSome classifies as Benign
ABO(rs1474135537):c.G>A, noted as synonymous in protein effect and VarSome classifies as VUS
ABO(rs8176748):c.C>T, noted as missense in protein effect and VarSome classifies as Benign
ABO(rs8176745):c.G?A, noted as synonymous in protein effect and VarSome classifies as Benign
ABO(rs8176744):c.G>T, noted as synonymous in protein effect and VarSome classifies as Benign
ABO(rs8176743):c.C>T, noted as missense in protein effect and VarSome classifies as Benign
ABO(rs8176742):c.C>T, noted as synonymous in protein effect and VarSome classifies as Benign
ABO(rs8176741):c.G>A, noted as synonymous in protein effect and VarSome classifies as Benign
ABO(rs8176740):c.C>T, noted as missense in protein effect and VarSome classifies as Benign
ABO(rs7853989):c.G>C noted as missense in protein effect and VarSome classifies as Benign
ABO(rs1053878):c.G>A noted as missense in protein effect and VarSome classifies as Benign
ABO(rs8176720):c.T>C, noted as synonymous in protein effect and VarSome classifies as Benign
ABO(rs8176719):c.-/C, noted as frameshift in protein effect and VarSome classifies as Benign
ABO(rs512770):c.G>A, noted as missense in protein effect and VarSome classifies as Benign
ABO(rs688976):c.C>A, noted as missense in protein effect and VarSome classifies as Benign
ABO(rs8176696):c.C>T, noted as missense in protein effect and VarSome classifies as Likely Benign
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