ClinVar Miner

List of variants in gene VHL reported as likely benign for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 179
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.246C>T (p.Arg82=) rs587780993 0.00014
NM_000551.4(VHL):c.-64C>T rs772944298 0.00013
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
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.25G>A (p.Asp9Asn) rs587780730 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.114C>T (p.Ser38=) rs417164 0.00004
NM_000551.4(VHL):c.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr) rs587780731 0.00003
NM_000551.4(VHL):c.340+20G>A rs757151154 0.00003
NM_000551.4(VHL):c.54A>C (p.Ala18=) rs1305687580 0.00003
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 0.00002
NM_000551.4(VHL):c.300G>T (p.Thr100=) rs915491008 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.48G>A (p.Glu16=) rs1057522140 0.00002
NM_000551.4(VHL):c.-12_2dup (p.Met1fs) rs886041253 0.00001
NM_000551.4(VHL):c.102C>T (p.Gly34=) rs967421751 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.129C>T (p.Ser43=) rs864622645 0.00001
NM_000551.4(VHL):c.12G>A (p.Arg4=) rs1553619274 0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg) rs199583685 0.00001
NM_000551.4(VHL):c.141A>G (p.Glu47=) rs1353920298 0.00001
NM_000551.4(VHL):c.165G>A (p.Glu55=) rs1553619391 0.00001
NM_000551.4(VHL):c.171G>A (p.Gly57=) rs750103719 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 0.00001
NM_000551.4(VHL):c.180G>C (p.Arg60=) rs1224891387 0.00001
NM_000551.4(VHL):c.184G>C (p.Val62Leu) rs747861291 0.00001
NM_000551.4(VHL):c.18G>T (p.Glu6Asp) rs1004620245 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.216C>T (p.Ser72=) rs774557051 0.00001
NM_000551.4(VHL):c.21C>A (p.Asn7Lys) rs1060503561 0.00001
NM_000551.4(VHL):c.222C>G (p.Val74=) rs759737367 0.00001
NM_000551.4(VHL):c.225C>T (p.Ile75=) rs768104793 0.00001
NM_000551.4(VHL):c.249C>G (p.Val83=) rs1271292937 0.00001
NM_000551.4(VHL):c.252G>C (p.Val84=) rs1436342215 0.00001
NM_000551.4(VHL):c.255G>A (p.Leu85=) rs876658508 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.261A>G (p.Val87=) rs1386184754 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.285G>T (p.Pro95=) rs975432073 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 0.00001
NM_000551.4(VHL):c.304C>T (p.Pro102Ser) rs532018719 0.00001
NM_000551.4(VHL):c.306G>A (p.Pro102=) rs550155859 0.00001
NM_000551.4(VHL):c.31G>C (p.Ala11Pro) rs1236604706 0.00001
NM_000551.4(VHL):c.336C>T (p.Tyr112=) rs751232153 0.00001
NM_000551.4(VHL):c.37G>A (p.Val13Ile) rs919338576 0.00001
NM_000551.4(VHL):c.39A>G (p.Val13=) rs996469746 0.00001
NM_000551.4(VHL):c.39A>T (p.Val13=) rs996469746 0.00001
NM_000551.4(VHL):c.45G>T (p.Ala15=) rs563813895 0.00001
NM_000551.4(VHL):c.88G>A (p.Gly30Arg) rs913104799 0.00001
NM_000551.4(VHL):c.93G>C (p.Glu31Asp) rs1438911242 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NM_000551.4(VHL):c.108G>A (p.Glu36=) rs1553619344
NM_000551.4(VHL):c.10A>C (p.Arg4=) rs886057702
NM_000551.4(VHL):c.111G>A (p.Glu37=) rs1398333169
NM_000551.4(VHL):c.117C>G (p.Gly39=) rs1057521552
NM_000551.4(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.4(VHL):c.11G>A (p.Arg4Lys) rs886057703
NM_000551.4(VHL):c.120G>A (p.Pro40=) rs1189123803
NM_000551.4(VHL):c.123_137dup (p.38SGPEE[3]) rs863224839
NM_000551.4(VHL):c.131G>A (p.Gly44Asp) rs1056226386
NM_000551.4(VHL):c.131G>C (p.Gly44Ala) rs1056226386
NM_000551.4(VHL):c.131G>T (p.Gly44Val) rs1056226386
NM_000551.4(VHL):c.132C>G (p.Gly44=) rs1696123413
NM_000551.4(VHL):c.134C>T (p.Pro45Leu) rs199583685
NM_000551.4(VHL):c.147C>G (p.Gly49=) rs1449801595
NM_000551.4(VHL):c.147C>T (p.Gly49=) rs1449801595
NM_000551.4(VHL):c.149C>G (p.Ala50Gly) rs766576246
NM_000551.4(VHL):c.150C>A (p.Ala50=) rs61751580
NM_000551.4(VHL):c.151G>C (p.Glu51Gln) rs1480825246
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.156G>A (p.Glu52=) rs2125124847
NM_000551.4(VHL):c.15G>A (p.Ala5=) rs1355874307
NM_000551.4(VHL):c.168C>G (p.Ala56=) rs864622714
NM_000551.4(VHL):c.168C>T (p.Ala56=) rs864622714
NM_000551.4(VHL):c.16G>A (p.Glu6Lys)
NM_000551.4(VHL):c.171G>T (p.Gly57=) rs750103719
NM_000551.4(VHL):c.174G>C (p.Arg58=) rs2125124907
NM_000551.4(VHL):c.17A>C (p.Glu6Ala) rs1696114029
NM_000551.4(VHL):c.180G>A (p.Arg60=) rs1224891387
NM_000551.4(VHL):c.180G>T (p.Arg60=) rs1224891387
NM_000551.4(VHL):c.183C>A (p.Pro61=) rs63650860
NM_000551.4(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.4(VHL):c.187C>T (p.Leu63=) rs2470157995
NM_000551.4(VHL):c.189G>A (p.Leu63=) rs1575921711
NM_000551.4(VHL):c.195G>C (p.Ser65=) rs1553619409
NM_000551.4(VHL):c.197T>C (p.Val66Ala)
NM_000551.4(VHL):c.201C>T (p.Asn67=) rs769658318
NM_000551.4(VHL):c.204G>C (p.Ser68=) rs773246608
NM_000551.4(VHL):c.207C>G (p.Arg69=) rs1060503550
NM_000551.4(VHL):c.213C>G (p.Pro71=) rs201663073
NM_000551.4(VHL):c.217C>G (p.Gln73Glu) rs869025619
NM_000551.4(VHL):c.21C>G (p.Asn7Lys) rs1060503561
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.222C>T (p.Val74=) rs759737367
NM_000551.4(VHL):c.228C>T (p.Phe76=) rs1575921940
NM_000551.4(VHL):c.231C>T (p.Cys77=) rs2125125069
NM_000551.4(VHL):c.237C>G (p.Arg79=) rs760899424
NM_000551.4(VHL):c.240T>C (p.Ser80=) rs1553619424
NM_000551.4(VHL):c.243G>A (p.Pro81=)
NM_000551.4(VHL):c.246C>A (p.Arg82=)
NM_000551.4(VHL):c.249C>A (p.Val83=) rs1271292937
NM_000551.4(VHL):c.252G>A (p.Val84=) rs1436342215
NM_000551.4(VHL):c.253C>G (p.Leu85Val) rs1422271977
NM_000551.4(VHL):c.253C>T (p.Leu85=) rs1422271977
NM_000551.4(VHL):c.255G>C (p.Leu85=) rs876658508
NM_000551.4(VHL):c.255G>T (p.Leu85=) rs876658508
NM_000551.4(VHL):c.258C>T (p.Pro86=) rs781063331
NM_000551.4(VHL):c.267C>G (p.Leu89=) rs755794553
NM_000551.4(VHL):c.267C>T (p.Leu89=) rs755794553
NM_000551.4(VHL):c.26A>C (p.Asp9Ala) rs1060503560
NM_000551.4(VHL):c.270C>T (p.Asn90=) rs2125125197
NM_000551.4(VHL):c.273C>T (p.Phe91=) rs1060503563
NM_000551.4(VHL):c.276C>T (p.Asp92=) rs1442093467
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.27C>T (p.Asp9=) rs1017141110
NM_000551.4(VHL):c.285G>A (p.Pro95=) rs975432073
NM_000551.4(VHL):c.288G>A (p.Gln96=) rs1553619446
NM_000551.4(VHL):c.289C>A (p.Pro97Thr) rs863224688
NM_000551.4(VHL):c.291C>T (p.Pro97=) rs1805159
NM_000551.4(VHL):c.295C>A (p.Pro99Thr) rs549807529
NM_000551.4(VHL):c.295C>T (p.Pro99Ser)
NM_000551.4(VHL):c.297A>C (p.Pro99=) rs774753107
NM_000551.4(VHL):c.297A>G (p.Pro99=)
NM_000551.4(VHL):c.297A>T (p.Pro99=)
NM_000551.4(VHL):c.303G>A (p.Leu101=) rs766583052
NM_000551.4(VHL):c.306G>T (p.Pro102=) rs550155859
NM_000551.4(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.4(VHL):c.309T>C (p.Pro103=) rs1262511541
NM_000551.4(VHL):c.30G>A (p.Glu10=) rs963501454
NM_000551.4(VHL):c.321C>T (p.Arg107=) rs864622334
NM_000551.4(VHL):c.326T>C (p.Ile109Thr)
NM_000551.4(VHL):c.327C>A (p.Ile109=) rs863224371
NM_000551.4(VHL):c.327C>G (p.Ile109Met) rs863224371
NM_000551.4(VHL):c.330C>T (p.His110=) rs1696140667
NM_000551.4(VHL):c.33C>G (p.Ala11=) rs778674343
NM_000551.4(VHL):c.36G>A (p.Glu12=) rs973493604
NM_000551.4(VHL):c.37G>C (p.Val13Leu) rs919338576
NM_000551.4(VHL):c.38T>C (p.Val13Ala) rs1553619289
NM_000551.4(VHL):c.39A>C (p.Val13=) rs996469746
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.42C>G (p.Gly14=) rs1696116574
NM_000551.4(VHL):c.42C>T (p.Gly14=) rs1696116574
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.45G>A (p.Ala15=) rs563813895
NM_000551.4(VHL):c.54A>G (p.Ala18=) rs1305687580
NM_000551.4(VHL):c.57C>G (p.Gly19=) rs1453582828
NM_000551.4(VHL):c.58G>A (p.Val20Ile)
NM_000551.4(VHL):c.59T>C (p.Val20Ala) rs929332564
NM_000551.4(VHL):c.60C>T (p.Val20=) rs1553619311
NM_000551.4(VHL):c.63A>G (p.Glu21=) rs1696117984
NM_000551.4(VHL):c.66G>A (p.Glu22=) rs768452685
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp) rs1696118253
NM_000551.4(VHL):c.69C>T (p.Tyr23=) rs1553619313
NM_000551.4(VHL):c.6C>G (p.Pro2=) rs1014417508
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.75T>C (p.Pro25=) rs1553619317
NM_000551.4(VHL):c.75T>G (p.Pro25=)
NM_000551.4(VHL):c.83A>G (p.Asp28Gly) rs2125124629
NM_000551.4(VHL):c.87C>A (p.Gly29=) rs987301475
NM_000551.4(VHL):c.87C>T (p.Gly29=) rs987301475
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
NM_000551.4(VHL):c.99G>A (p.Ser33=) rs912159589
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514
NM_000551.4(VHL):c.9G>C (p.Arg3=) rs1696113334

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.