ClinVar Miner

List of variants reported as pathogenic for Bernard-Soulier syndrome, type A2, autosomal dominant

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) rs121908065
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) rs2151107661

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