3 Matching Annotations
- Dec 2023
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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de novo variant (c.2738_2739delAT [p.Tyr913∗])
Case: DiseaseAssertion: FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting: GenotypingMethod: PreviouslyPublished: as applicable SupplementalData: as applicable Variant: ClinVarID: A curator only needs to include either a ClinVarID or CAID, not both. CAID: d gnomAD: VariantEvidence: Only use if applicable
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- Jul 2017
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academic.oup.com academic.oup.com
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c.1021G > A, p.G341R
http://gnomad.broadinstitute.org/variant/1-222736579-C-T Total: 7/245186, 0 homozygotes; MAF = 0.00002855
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c.251T > C, p.L84S
http://gnomad.broadinstitute.org/variant/1-222757510-A-G Total: 9/273566, 0 homozygotes; MAF = 0.00003290
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