ClinVar Miner

List of variants in gene VHL studied for not specified

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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-77C>T rs3087462 0.02828
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
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.150C>G (p.Ala50=) rs61751580 0.00070
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
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.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000551.4(VHL):c.-26C>G rs775446934 0.00007
NM_000551.4(VHL):c.-47C>T rs745439844 0.00006
NM_000551.4(VHL):c.-38C>T rs933174704 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.340+20G>A rs757151154 0.00003
NM_000551.4(VHL):c.340+8C>A rs756068442 0.00003
NM_000551.4(VHL):c.-36C>G rs1349047110 0.00002
NM_000551.4(VHL):c.301C>T (p.Leu101=) rs772300829 0.00002
NM_000551.4(VHL):c.315G>C (p.Thr105=) rs769102979 0.00002
NM_000551.4(VHL):c.-12_2dup (p.Met1fs) rs886041253 0.00001
NM_000551.4(VHL):c.-15T>C rs776768994 0.00001
NM_000551.4(VHL):c.-25C>A rs1340337531 0.00001
NM_000551.4(VHL):c.-29C>A rs558788270 0.00001
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NM_000551.4(VHL):c.-40C>T rs1052005754 0.00001
NM_000551.4(VHL):c.-44G>T rs929301467 0.00001
NM_000551.4(VHL):c.192C>T (p.Arg64=) rs1012545817 0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=) rs768104793 0.00001
NM_000551.4(VHL):c.285G>T (p.Pro95=) rs975432073 0.00001
NM_000551.4(VHL):c.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.4(VHL):c.48G>A (p.Glu16=) rs1057522140 0.00001
NM_000551.3(VHL):c.-110C>G rs1696106905
NM_000551.3(VHL):c.-122T>C rs1212094215
NM_000551.4(VHL):c.-10C>T rs1192379474
NM_000551.4(VHL):c.-13G>T rs1057522448
NM_000551.4(VHL):c.-16C>T rs893572737
NM_000551.4(VHL):c.-36C>T rs1349047110
NM_000551.4(VHL):c.-47C>G rs745439844
NM_000551.4(VHL):c.-48C>G rs973379327
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.4(VHL):c.128C>A (p.Ser43Tyr) rs202164771
NM_000551.4(VHL):c.132C>G (p.Gly44=) rs1696123413
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.168C>G (p.Ala56=) rs864622714
NM_000551.4(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.4(VHL):c.213C>G (p.Pro71=) rs201663073
NM_000551.4(VHL):c.21C>T (p.Asn7=) rs1060503561
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.315G>A (p.Thr105=) rs769102979
NM_000551.4(VHL):c.340+14G>T rs1057523480
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.66G>A (p.Glu22=) rs768452685
NM_000551.4(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.4(VHL):c.83A>G (p.Asp28Gly) rs2125124629

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