ClinVar Miner

List of variants in gene VHL reported as uncertain significance for Hereditary cancer-predisposing syndrome

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Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_000551.4(VHL):c.28G>A (p.Glu10Lys) rs1057519261 0.00006
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.274G>T (p.Asp92Tyr) rs587780731 0.00003
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.7C>T (p.Arg3Trp) rs878854130 0.00002
NM_000551.4(VHL):c.-3G>A rs902212096 0.00001
NM_000551.4(VHL):c.109G>A (p.Glu37Lys) rs1338996432 0.00001
NM_000551.4(VHL):c.124G>A (p.Glu42Lys) rs1696122809 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.184G>C (p.Val62Leu) rs747861291 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.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.284C>T (p.Pro95Leu) rs964996401 0.00001
NM_000551.4(VHL):c.289C>T (p.Pro97Ser) rs863224688 0.00001
NM_000551.4(VHL):c.298A>G (p.Thr100Ala) rs745901803 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.40G>C (p.Gly14Arg) rs1060503559 0.00001
NM_000551.4(VHL):c.46G>C (p.Glu16Gln) rs1060503556 0.00001
NM_000551.4(VHL):c.4C>G (p.Pro2Ala) rs1034974221 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.73C>G (p.Pro25Ala) rs745338799 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
NM_000551.4(VHL):c.98C>A (p.Ser33Ter) rs1476994915 0.00001
NM_000551.4(VHL):c.98C>T (p.Ser33Leu) rs1476994915 0.00001
NM_000551.4(VHL):c.-11_10dup (p.Arg3_Arg4insIleAlaGluGlyMetProArg)
NM_000551.4(VHL):c.-1A>G
NM_000551.4(VHL):c.-1A>T
NM_000551.4(VHL):c.-2G>A rs937566924
NM_000551.4(VHL):c.-4G>A
NM_000551.4(VHL):c.-4G>C
NM_000551.4(VHL):c.-4delinsAT
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.100G>A (p.Gly34Ser)
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.104C>T (p.Ala35Val) rs587780536
NM_000551.4(VHL):c.108_122dup (p.38_42SGPEE[3]) rs1340164546
NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu) rs1575920840
NM_000551.4(VHL):c.112_156dup (p.Ser38_Glu52dup) rs1575921303
NM_000551.4(VHL):c.113C>T (p.Ser38Phe) rs867958699
NM_000551.4(VHL):c.115G>A (p.Gly39Ser) rs768650092
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.118C>G (p.Pro40Ala) rs776399733
NM_000551.4(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.4(VHL):c.121G>A (p.Glu41Lys) rs1475252559
NM_000551.4(VHL):c.123A>C (p.Glu41Asp)
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.126G>C (p.Glu42Asp)
NM_000551.4(VHL):c.131G>A (p.Gly44Asp) rs1056226386
NM_000551.4(VHL):c.133C>G (p.Pro45Ala) rs1575921452
NM_000551.4(VHL):c.134C>T (p.Pro45Leu) rs199583685
NM_000551.4(VHL):c.136G>A (p.Glu46Lys) rs1575921470
NM_000551.4(VHL):c.13G>T (p.Ala5Ser) rs1559425498
NM_000551.4(VHL):c.146G>A (p.Gly49Asp) rs1252338161
NM_000551.4(VHL):c.149C>T (p.Ala50Val) rs766576246
NM_000551.4(VHL):c.151G>A (p.Glu51Lys) rs1480825246
NM_000551.4(VHL):c.151GAG[2] (p.Glu53del)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.160A>T (p.Met54Leu) rs1696125033
NM_000551.4(VHL):c.161T>C (p.Met54Thr) rs1575921544
NM_000551.4(VHL):c.165G>A (p.Glu55=) rs1553619391
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.4(VHL):c.169G>T (p.Gly57Trp) rs1064795194
NM_000551.4(VHL):c.173G>A (p.Arg58Gln) rs1553619400
NM_000551.4(VHL):c.175C>T (p.Pro59Ser) rs876659041
NM_000551.4(VHL):c.178C>G (p.Arg60Gly) rs1035077469
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.184G>A (p.Val62Met) rs747861291
NM_000551.4(VHL):c.185T>C (p.Val62Ala) rs1696127941
NM_000551.4(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.4(VHL):c.196G>A (p.Val66Met) rs1575921766
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.200A>G (p.Asn67Ser)
NM_000551.4(VHL):c.201C>G (p.Asn67Lys)
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.206G>T (p.Arg69Leu) rs1171336955
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.20A>G (p.Asn7Ser) rs1575920892
NM_000551.4(VHL):c.210G>C (p.Glu70Asp) rs1553619417
NM_000551.4(VHL):c.214_216del (p.Ser72del)
NM_000551.4(VHL):c.215C>T (p.Ser72Phe) rs962558566
NM_000551.4(VHL):c.217C>G (p.Gln73Glu) rs869025619
NM_000551.4(VHL):c.218A>G (p.Gln73Arg) rs1295818809
NM_000551.4(VHL):c.223A>C (p.Ile75Leu) rs1060503554
NM_000551.4(VHL):c.223A>G (p.Ile75Val) rs1060503554
NM_000551.4(VHL):c.225C>G (p.Ile75Met) rs768104793
NM_000551.4(VHL):c.227T>G (p.Phe76Cys) rs730882033
NM_000551.4(VHL):c.230G>T (p.Cys77Phe)
NM_000551.4(VHL):c.244C>T (p.Arg82Cys) rs1214305423
NM_000551.4(VHL):c.245G>A (p.Arg82His) rs794726890
NM_000551.4(VHL):c.251T>C (p.Val84Ala) rs1264207864
NM_000551.4(VHL):c.253C>G (p.Leu85Val) rs1422271977
NM_000551.4(VHL):c.259G>A (p.Val87Ile)
NM_000551.4(VHL):c.25G>C (p.Asp9His) rs587780730
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.26A>C (p.Asp9Ala) rs1060503560
NM_000551.4(VHL):c.271T>C (p.Phe91Leu) rs1559426039
NM_000551.4(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.4(VHL):c.278G>C (p.Gly93Ala)
NM_000551.4(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.4(VHL):c.282G>T (p.Glu94Asp)
NM_000551.4(VHL):c.28G>C (p.Glu10Gln) rs1057519261
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.295C>A (p.Pro99Thr) rs549807529
NM_000551.4(VHL):c.296C>G (p.Pro99Arg) rs1553619452
NM_000551.4(VHL):c.299C>T (p.Thr100Met) rs1346874866
NM_000551.4(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.4(VHL):c.308C>T (p.Pro103Leu) rs2125125299
NM_000551.4(VHL):c.30G>C (p.Glu10Asp) rs963501454
NM_000551.4(VHL):c.30G>T (p.Glu10Asp) rs963501454
NM_000551.4(VHL):c.327C>G (p.Ile109Met) rs863224371
NM_000551.4(VHL):c.335A>C (p.Tyr112Ser)
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.338G>A (p.Arg113Gln)
NM_000551.4(VHL):c.340+3A>G rs1575922597
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>C (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.41G>A (p.Gly14Asp) rs1575921044
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.46G>T (p.Glu16Ter) rs1060503556
NM_000551.4(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.4(VHL):c.47A>T (p.Glu16Val) rs864622379
NM_000551.4(VHL):c.48G>C (p.Glu16Asp) rs1057522140
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.52G>T (p.Ala18Ser) rs1332272921
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>A (p.Pro2His)
NM_000551.4(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.62A>G (p.Glu21Gly)
NM_000551.4(VHL):c.65A>G (p.Glu22Gly) rs2125124570
NM_000551.4(VHL):c.65A>T (p.Glu22Val)
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.4(VHL):c.70G>C (p.Gly24Arg) rs1438223626
NM_000551.4(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.4(VHL):c.76G>A (p.Glu26Lys) rs1575921209
NM_000551.4(VHL):c.7C>G (p.Arg3Gly) rs878854130
NM_000551.4(VHL):c.7del (p.Arg3fs) rs1575920798
NM_000551.4(VHL):c.80A>G (p.Glu27Gly) rs2125124617
NM_000551.4(VHL):c.81A>C (p.Glu27Asp)
NM_000551.4(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.4(VHL):c.85G>A (p.Gly29Ser)
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.88G>T (p.Gly30Trp) rs913104799
NM_000551.4(VHL):c.89G>C (p.Gly30Ala) rs1064793290
NM_000551.4(VHL):c.8G>A (p.Arg3Gln) rs1178481595
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.4(VHL):c.91del (p.Glu31fs)
NM_000551.4(VHL):c.92A>G (p.Glu31Gly)
NM_000551.4(VHL):c.97T>G (p.Ser33Ala)
NM_000551.4(VHL):c.99_113dup (p.Ala35_Gly39dup) rs1236159514
NM_000551.4(VHL):c.9_10insGCGG (p.Arg4fs) rs1559425474

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