ClinVar Miner

List of variants in gene VHL reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-195G>A rs779805 0.56161
NC_000003.12:g.10141318G>C rs10433558 0.22581
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_000551.4(VHL):c.-64C>T rs772944298 0.00014
NM_000551.4(VHL):c.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
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.115G>C (p.Gly39Arg) rs768650092 0.00007
NM_000551.4(VHL):c.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.4(VHL):c.312C>T (p.Gly104=) rs946898891 0.00007
NM_000551.4(VHL):c.-47C>T rs745439844 0.00006
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 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.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.213C>T (p.Pro71=) rs201663073 0.00004
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.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 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.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.336C>T (p.Tyr112=) rs751232153 0.00002
NM_000551.4(VHL):c.7C>T (p.Arg3Trp) rs878854130 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.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.111G>C (p.Glu37Asp) rs1398333169 0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg) rs199583685 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.192C>T (p.Arg64=) rs1012545817 0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu) rs1060503557 0.00001
NM_000551.4(VHL):c.205C>G (p.Arg69Gly) rs1428175816 0.00001
NM_000551.4(VHL):c.21C>A (p.Asn7Lys) rs1060503561 0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=) rs768104793 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.247G>C (p.Val83Leu) rs751042065 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.284C>T (p.Pro95Leu) rs964996401 0.00001
NM_000551.4(VHL):c.285G>T (p.Pro95=) rs975432073 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.305C>T (p.Pro102Leu) rs1379270197 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.48G>A (p.Glu16=) rs1057522140 0.00001
NM_000551.4(VHL):c.4C>T (p.Pro2Ser) rs1034974221 0.00001
NM_000551.4(VHL):c.88G>A (p.Gly30Arg) rs913104799 0.00001
NM_000551.4(VHL):c.8G>C (p.Arg3Pro) rs1178481595 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NC_000003.12:g.10141556_10141557insAAA rs1696098774
NC_000003.12:g.10141569_10141571dup rs36068404
NC_000003.12:g.10141570_10141571dup rs36068404
NC_000003.12:g.10141590C>T rs779804
NM_000551.4(VHL):c.-10C>T rs1192379474
NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)
NM_000551.4(VHL):c.-13G>T rs1057522448
NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs) rs2125124326
NM_000551.4(VHL):c.-16C>T rs893572737
NM_000551.4(VHL):c.-1A>G
NM_000551.4(VHL):c.-36C>T rs1349047110
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000551.4(VHL):c.-47C>G rs745439844
NM_000551.4(VHL):c.-48C>G rs973379327
NM_000551.4(VHL):c.-54_-35dup rs730882036
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.4(VHL):c.119C>G (p.Pro40Arg) rs200343185
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3]) rs863224839
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.127T>C (p.Ser43Pro) rs1696123001
NM_000551.4(VHL):c.13_31dup (p.Ala11fs) rs1455562175
NM_000551.4(VHL):c.149C>T (p.Ala50Val) rs766576246
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.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
NM_000551.4(VHL):c.168C>G (p.Ala56=) rs864622714
NM_000551.4(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.4(VHL):c.16_34dup (p.Glu12fs) rs1553619276
NM_000551.4(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.4(VHL):c.180del (p.Val62fs) rs730882037
NM_000551.4(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.4(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.199A>C (p.Asn67His) rs1064794129
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.212C>T (p.Pro71Leu) rs2125125002
NM_000551.4(VHL):c.213C>G (p.Pro71=) rs201663073
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.219_220del (p.Gln73fs) rs730882039
NM_000551.4(VHL):c.21C>T (p.Asn7=) rs1060503561
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.242C>A (p.Pro81Gln) rs193922608
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
NM_000551.4(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.340+14G>T rs1057523480
NM_000551.4(VHL):c.340+3A>G rs1575922597
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) rs973493604
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.40G>A (p.Gly14Ser) rs1060503559
NM_000551.4(VHL):c.49G>T (p.Glu17Ter) rs1028898216
NM_000551.4(VHL):c.51G>T (p.Glu17Asp) rs2125124538
NM_000551.4(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.66G>A (p.Glu22=) rs768452685
NM_000551.4(VHL):c.6C>T (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.87C>T (p.Gly29=) rs987301475
NM_000551.4(VHL):c.91del (p.Glu31fs)
NM_000551.4(VHL):c.97del (p.Ser33fs) rs2125124691
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514

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