ClinVar Miner

List of variants studied for Von Hippel-Lindau syndrome by Invitae

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Total variants: 10
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HGVS dbSNP
NM_000551.3(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.3(VHL):c.289C>T (p.Pro97Ser) rs863224688
NM_000551.3(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.3(VHL):c.321C>T (p.Arg107=) rs864622334
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.416C>T (p.Ser139Phe) rs587780732
NM_000551.3(VHL):c.434A>T (p.Gln145Leu) rs864622313
NM_000551.3(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.525C>G (p.Tyr175Ter) rs5030835
NM_198156.3(VHL):c.341-3237del rs1553619952

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