ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as likely pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 14
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NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.3(VHL):c.492G>C (p.Gln164His) rs1352275281
NM_000551.3(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.3(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.3(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824

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