ClinVar Miner

List of variants reported as likely pathogenic for Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome

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Total variants: 7
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HGVS dbSNP
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.344A>G (p.His115Arg)
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820

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