ClinVar Miner

List of variants in gene combination GP1BA, LOC130060044 reported as uncertain significance for Bernard-Soulier syndrome

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)	rs772106076	0.00053
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)	rs570515282	0.00010

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