ClinVar Miner

List of variants in gene VHL studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
Download table as spreadsheet
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.-23G>C rs760414295 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.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.89G>A (p.Gly30Glu) rs1064793290 0.00006
NM_000551.4(VHL):c.-55del rs1361905543 0.00005
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.22T>C (p.Trp8Arg) rs1352171735 0.00003
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.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.4(VHL):c.336C>T (p.Tyr112=) rs751232153 0.00002
NM_000551.4(VHL):c.340+11G>A rs1309285376 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.-35G>A rs587780992 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.109G>A (p.Glu37Lys) rs1338996432 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.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.292T>C (p.Tyr98His) rs5030809 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.340+2T>C rs1407805768 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.46G>C (p.Glu16Gln) rs1060503556 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.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)
NM_000551.4(VHL):c.-15_4delinsCGGCCCGGGTGGTCTGGTCTCCG (p.Met1fs) rs2125124326
NM_000551.4(VHL):c.-1A>G
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000551.4(VHL):c.-61_-51dup rs727503743
NM_000551.4(VHL):c.-62_-43del
NM_000551.4(VHL):c.-9_5dup (p.Ala5fs) rs730882038
NM_000551.4(VHL):c.103G>A (p.Ala35Thr) rs1405360663
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.109G>T (p.Glu37Ter) rs1338996432
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
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.134C>T (p.Pro45Leu) rs199583685
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.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.188T>C (p.Leu63Pro) rs104893827
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.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.208G>T (p.Glu70Ter) rs5030802
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.216C>A (p.Ser72=) rs774557051
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
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.227T>G (p.Phe76Cys) rs730882033
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
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.245G>C (p.Arg82Pro) rs794726890
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000551.4(VHL):c.273del (p.Phe91fs) rs1559426047
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.325A>G (p.Ile109Val)
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.329del (p.His110fs) rs1559426199
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+1G>C rs730882032
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.6C>T (p.Pro2=) rs1014417508
NM_000551.4(VHL):c.72C>A (p.Gly24=) rs1375079282
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.