ClinVar Miner

List of variants reported as benign for Bernard-Soulier syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):

Bernard Soulier syndrome
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease
Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Pseudo von Willebrand disease
Bernard-Soulier syndrome, type A2, autosomal dominant

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs)	rs770089708	0.39537
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly)	rs111292798	0.00526

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