ClinVar Miner

List of variants studied for Bernard Soulier syndrome by Genetics and Molecular Pathology, SA Pathology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000407.5(GP1BB):c.148C>A (p.Pro50Thr)
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)

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