ClinVar Miner

List of variants studied for Bernard-Soulier syndrome by Revvity Omics, Revvity

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
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu)	rs547921381	0.00302
NM_000174.5(GP9):c.368C>T (p.Pro123Leu)	rs202229101	0.00089
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)	rs5030764	0.00076
NM_000407.5(GP1BB):c.436C>T (p.Leu146Phe)

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