ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP
NM_000551.3(VHL):c.356_357insGG (p.Phe119Leufs) rs1131691526
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.531_542delACTGGACATCGTinsTC (p.Arg177Serfs) rs1553620331
NM_000551.3(VHL):c.556G>T (p.Glu186Ter) rs367545984

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