ClinVar Miner

List of variants studied for Bernard-Soulier syndrome, type A2, autosomal dominant

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) rs771048666 0.00013
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe) rs767224320 0.00001
NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val)
NM_000173.7(GP1BA):c.1233_1349del (p.Ser415_Thr453del)
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) rs773663190
NM_000173.7(GP1BA):c.1480del (p.Thr494fs) rs759573909
NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) rs763978422
NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) rs2151107705
NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro) rs2151107711
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) rs121908063
NM_000173.7(GP1BA):c.334G>C (p.Gly112Arg)
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) rs1597638745
NM_000173.7(GP1BA):c.463C>G (p.Leu155Val) rs2151107851
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) rs121908065
NM_000173.7(GP1BA):c.520A>G (p.Asn174Asp)
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly) rs2151107661
NM_000173.7(GP1BA):c.638T>C (p.Leu213Pro)
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) rs1394634674
NM_000173.7(GP1BA):c.694T>A (p.Phe232Ile)
NM_000173.7(GP1BA):c.92T>A (p.Val31Glu)
NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) rs1597638300

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