ClinVar Miner

List of variants in gene VHL reported as uncertain significance for Von Hippel-Lindau syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 122
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.-64C>T rs772944298 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_000551.3(VHL):c.-207C>T rs886057698 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.-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.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.4(VHL):c.323G>A (p.Arg108His) rs367594943 0.00002
NM_000551.3(VHL):c.-179G>A rs1466966053 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.10A>T (p.Arg4Trp) rs886057702 0.00001
NM_000551.4(VHL):c.116G>A (p.Gly39Asp) rs368473853 0.00001
NM_000551.4(VHL):c.118C>T (p.Pro40Ser) rs776399733 0.00001
NM_000551.4(VHL):c.139G>A (p.Glu47Lys) rs1457039250 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.182C>T (p.Pro61Leu) rs746582207 0.00001
NM_000551.4(VHL):c.1A>T (p.Met1Leu) rs1060503557 0.00001
NM_000551.4(VHL):c.216C>T (p.Ser72=) rs774557051 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.305C>T (p.Pro102Leu) rs1379270197 0.00001
NM_000551.4(VHL):c.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.38T>G (p.Val13Gly) rs1553619289 0.00001
NM_000551.4(VHL):c.4C>T (p.Pro2Ser) rs1034974221 0.00001
NM_000551.4(VHL):c.71G>A (p.Gly24Asp) rs878854129 0.00001
NM_000551.4(VHL):c.95A>G (p.Glu32Gly) rs786203104 0.00001
NM_000551.4(VHL):c.98C>T (p.Ser33Leu) rs1476994915 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NM_000551.3(VHL):c.-118C>T rs1696106670
NM_000551.3(VHL):c.-125C>A rs886057700
NM_000551.3(VHL):c.-166C>T rs886057699
NM_000551.3(VHL):c.-77_-32del rs1553619239
NM_000551.4(VHL):c.-13G>C
NM_000551.4(VHL):c.-1A>G
NM_000551.4(VHL):c.-26C>T rs775446934
NM_000551.4(VHL):c.-30C>T rs886057701
NM_000551.4(VHL):c.-39_-10del
NM_000551.4(VHL):c.-50_-28del
NM_000551.4(VHL):c.-50_-28dup
NM_000551.4(VHL):c.-5dup
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.11G>T (p.Arg4Met) rs886057703
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.134C>T (p.Pro45Leu) rs199583685
NM_000551.4(VHL):c.138_160del (p.Glu46fs) rs1209079089
NM_000551.4(VHL):c.151G>A (p.Glu51Lys) rs1480825246
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.166G>A (p.Ala56Thr)
NM_000551.4(VHL):c.167C>A (p.Ala56Asp)
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.16G>C (p.Glu6Gln)
NM_000551.4(VHL):c.16G>T (p.Glu6Ter) rs545406510
NM_000551.4(VHL):c.179G>C (p.Arg60Pro) rs1696126647
NM_000551.4(VHL):c.17_35dup (p.Val13fs)
NM_000551.4(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.4(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.4(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.201C>A (p.Asn67Lys) rs769658318
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.210G>T (p.Glu70Asp) rs1553619417
NM_000551.4(VHL):c.215C>T (p.Ser72Phe) rs962558566
NM_000551.4(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.4(VHL):c.227T>C (p.Phe76Ser) rs730882033
NM_000551.4(VHL):c.244C>G (p.Arg82Gly) rs1214305423
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.265C>T (p.Leu89Phe) rs1575922124
NM_000551.4(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000551.4(VHL):c.278G>T (p.Gly93Val) rs1553619440
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.4(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.4(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.4(VHL):c.290C>T (p.Pro97Leu) rs2125125249
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.29A>C (p.Glu10Ala)
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.321C>T (p.Arg107=) rs864622334
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.327C>G (p.Ile109Met) rs863224371
NM_000551.4(VHL):c.332G>T (p.Ser111Ile) rs869025631
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.340+7del rs1575922613
NM_000551.4(VHL):c.34G>T (p.Glu12Ter)
NM_000551.4(VHL):c.35A>T (p.Glu12Val)
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.3_4insGT (p.Pro2fs)
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.4(VHL):c.4_5insTCCG (p.Pro2fs)
NM_000551.4(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.4(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.4(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.4(VHL):c.65A>G (p.Glu22Gly) rs2125124570
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.7C>G (p.Arg3Gly) rs878854130
NM_000551.4(VHL):c.80A>C (p.Glu27Ala)
NM_000551.4(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.4(VHL):c.86G>T (p.Gly29Val)
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
NM_000551.4(VHL):c.89G>C (p.Gly30Ala) rs1064793290
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.4(VHL):c.97T>A (p.Ser33Thr) rs868726923
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.