ClinVar Miner

List of variants reported as pathogenic for Von Hippel-Lindau syndrome by CIViC knowledgebase, Washington University School of Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	rs5030648
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	rs5030825

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