ClinVar Miner

List of variants reported as likely benign for Bernard-Soulier syndrome by Illumina Laboratory Services, Illumina

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000174.5(GP9):c.-128C>T	rs554290942	0.00009
NM_000174.5(GP9):c.123C>T (p.His41=)	rs201755437	0.00005
NM_000174.5(GP9):c.-138-3C>G	rs182464550

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