ClinVar Miner

List of variants reported as uncertain significance for Bernard-Soulier syndrome by Baylor 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000407.5(GP1BB):c.215C>T (p.Pro72Leu)	rs755380704	0.00020
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)	rs1394634674

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