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: 27
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000551.4(VHL):c.492G>C (p.Gln164His) rs1352275281 0.00001
NM_000551.4(VHL):c.341-3T>G rs1131690965
NM_000551.4(VHL):c.344A>C (p.His115Pro) rs5030812
NM_000551.4(VHL):c.357C>A (p.Phe119Leu)
NM_000551.4(VHL):c.365C>T (p.Ala122Val) rs1696261924
NM_000551.4(VHL):c.395A>C (p.Gln132Pro) rs1347416980
NM_000551.4(VHL):c.397A>C (p.Thr133Pro) rs1131690961
NM_000551.4(VHL):c.402_428del (p.Glu134_Val142del)
NM_000551.4(VHL):c.460C>T (p.Pro154Ser) rs1553619993
NM_000551.4(VHL):c.463+3A>C rs1131690954
NM_000551.4(VHL):c.463G>T (p.Val155Leu) rs869025659
NM_000551.4(VHL):c.475A>G (p.Lys159Glu) rs1575932011
NM_000551.4(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.4(VHL):c.492G>T (p.Gln164His) rs1352275281
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.506T>C (p.Leu169Pro) rs1131690962
NM_000551.4(VHL):c.506del (p.Leu169fs)
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.581T>G (p.Val194Gly) rs1131690963
NM_000551.4(VHL):c.588del (p.Asp197fs)
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.4(VHL):c.607_608del (p.Gln203fs)

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