ClinVar Miner

List of variants in gene VHL reported as uncertain significance for not specified

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-97T>G rs34271731 0.00106
NM_000551.4(VHL):c.-5A>C rs35793832 0.00106
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_000551.3(VHL):c.-188G>A rs966586600 0.00020
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.-12_2dup (p.Met1fs) rs886041253 0.00001
NM_000551.4(VHL):c.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.3(VHL):c.-110C>G rs1696106905
NM_000551.3(VHL):c.-122T>C rs1212094215
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.128C>A (p.Ser43Tyr) rs202164771
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.22T>G (p.Trp8Gly) rs1352171735
NM_000551.4(VHL):c.268A>T (p.Asn90Tyr) rs1559426031
NM_000551.4(VHL):c.34G>T (p.Glu12Ter)
NM_000551.4(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.4(VHL):c.83A>G (p.Asp28Gly) rs2125124629

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