ClinVar Miner

List of variants reported as uncertain significance for Bernard Soulier syndrome; Bernard-Soulier syndrome, type A2, autosomal dominant; Nonarteritic anterior ischemic optic neuropathy, susceptibility to; Pseudo von Willebrand disease by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)	rs13306411	0.00007

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