ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as pathogenic by GeneDx

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Total variants: 13
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HGVS dbSNP
NM_000551.3(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.3(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.3(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.3(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.3(VHL):c.482_486del (p.Arg161fs) rs1064794037
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.3(VHL):c.551T>C (p.Leu184Pro) rs1064793878
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.612_613GC[1] (p.Arg205fs) rs730882030

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