- Feb 2025
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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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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