ClinVar Miner

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

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Gene type:
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Total variants: 145
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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.-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.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.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.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.267C>A (p.Leu89=) rs755794553 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.31G>C (p.Ala11Pro) rs1236604706 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.-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.108G>A (p.Glu36=) rs1553619344 0.00001
NM_000551.4(VHL):c.129C>T (p.Ser43=) rs864622645 0.00001
NM_000551.4(VHL):c.134C>G (p.Pro45Arg) rs199583685 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.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.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.37G>A (p.Val13Ile) rs919338576 0.00001
NM_000551.4(VHL):c.39A>G (p.Val13=) rs996469746 0.00001
NM_000551.4(VHL):c.48G>A (p.Glu16=) rs1057522140 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.10A>C (p.Arg4=)
NM_000551.4(VHL):c.111G>A (p.Glu37=)
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)
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.12G>A (p.Arg4=) rs1553619274
NM_000551.4(VHL):c.131G>A (p.Gly44Asp) 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.141A>G (p.Glu47=) rs1353920298
NM_000551.4(VHL):c.147C>G (p.Gly49=)
NM_000551.4(VHL):c.147C>T (p.Gly49=)
NM_000551.4(VHL):c.149C>G (p.Ala50Gly) rs766576246
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.165G>A (p.Glu55=) rs1553619391
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.171G>T (p.Gly57=)
NM_000551.4(VHL):c.174G>C (p.Arg58=)
NM_000551.4(VHL):c.180G>A (p.Arg60=) rs1224891387
NM_000551.4(VHL):c.180G>T (p.Arg60=)
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.189G>A (p.Leu63=) rs1575921711
NM_000551.4(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.4(VHL):c.195G>C (p.Ser65=) rs1553619409
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.21C>G (p.Asn7Lys) rs1060503561
NM_000551.4(VHL):c.21C>T (p.Asn7=) rs1060503561
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=)
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.249C>A (p.Val83=)
NM_000551.4(VHL):c.253C>T (p.Leu85=)
NM_000551.4(VHL):c.255G>C (p.Leu85=)
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=)
NM_000551.4(VHL):c.273C>T (p.Phe91=)
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.291C>T (p.Pro97=) rs1805159
NM_000551.4(VHL):c.297A>C (p.Pro99=) rs774753107
NM_000551.4(VHL):c.300G>T (p.Thr100=) rs915491008
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.309T>C (p.Pro103=) rs1262511541
NM_000551.4(VHL):c.30G>A (p.Glu10=) rs963501454
NM_000551.4(VHL):c.327C>A (p.Ile109=) rs863224371
NM_000551.4(VHL):c.33C>G (p.Ala11=)
NM_000551.4(VHL):c.36G>A (p.Glu12=) rs973493604
NM_000551.4(VHL):c.38T>C (p.Val13Ala) rs1553619289
NM_000551.4(VHL):c.39A>C (p.Val13=)
NM_000551.4(VHL):c.39A>T (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=)
NM_000551.4(VHL):c.42C>T (p.Gly14=) rs1696116574
NM_000551.4(VHL):c.45G>A (p.Ala15=) rs563813895
NM_000551.4(VHL):c.45G>T (p.Ala15=)
NM_000551.4(VHL):c.54A>G (p.Ala18=)
NM_000551.4(VHL):c.57C>G (p.Gly19=)
NM_000551.4(VHL):c.59T>C (p.Val20Ala) rs929332564
NM_000551.4(VHL):c.60C>T (p.Val20=)
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.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.83A>G (p.Asp28Gly) rs2125124629
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=)
NM_000551.4(VHL):c.9G>C (p.Arg3=)

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