ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely pathogenic for not provided

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Gene type:
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Total variants: 7
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NM_000551.3(VHL):c.344A>C (p.His115Pro)
NM_000551.3(VHL):c.356_357insGG (p.Phe119fs) rs1131691526
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.492G>C (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.531_542delinsTC (p.Arg177fs) rs1553620331
NM_000551.3(VHL):c.556G>T (p.Glu186Ter) rs367545984

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