ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP
NM_000551.3(VHL):c.341-21_341-19del rs779747717
NM_000551.3(VHL):c.345C>G (p.His115Gln) rs864622646
NM_000551.3(VHL):c.382C>T (p.Leu128Phe) rs1553619956
NM_000551.3(VHL):c.393C>A (p.Asn131Lys) rs1064794272
NM_000551.3(VHL):c.463+3A>G rs1131690954
NM_000551.3(VHL):c.464-117del rs193922612
NM_000551.3(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.4(VHL):c.454A>C (p.Thr152Pro)
NM_000551.4(VHL):c.490C>A (p.Gln164Lys)

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