ClinVar Miner

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

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Total variants: 19
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HGVS dbSNP
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.3(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
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.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.160A>T (p.Met54Leu)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.241C>G (p.Pro81Ala)
NM_000551.4(VHL):c.340+770T>C rs1346312258
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.593T>A (p.Leu198Gln)
NM_001354723.2(VHL):c.*125C>G rs28940301
NM_001354723.2(VHL):c.*42T>C rs28940297

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