ClinVar Miner

List of variants in gene VHL reported as uncertain significance for familial polycythemia

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 345
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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_000551.4(VHL):c.25G>A (p.Asp9Asn) rs587780730 0.00008
NM_000551.3(VHL):c.-207C>T rs886057698 0.00006
NM_000551.4(VHL):c.-47C>T rs745439844 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.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.22T>C (p.Trp8Arg) rs1352171735 0.00003
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.31G>C (p.Ala11Pro) rs1236604706 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.111G>C (p.Glu37Asp) rs1398333169 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.124G>A (p.Glu42Lys) rs1696122809 0.00001
NM_000551.4(VHL):c.139G>A (p.Glu47Lys) rs1457039250 0.00001
NM_000551.4(VHL):c.143T>G (p.Leu48Arg) rs199959170 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.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.228C>G (p.Phe76Leu) rs1575921940 0.00001
NM_000551.4(VHL):c.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.247G>C (p.Val83Leu) rs751042065 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.295C>G (p.Pro99Ala) rs549807529 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.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.4(VHL):c.34G>C (p.Glu12Gln) rs1064794788 0.00001
NM_000551.4(VHL):c.37G>A (p.Val13Ile) rs919338576 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.88G>A (p.Gly30Arg) rs913104799 0.00001
NM_000551.4(VHL):c.8G>C (p.Arg3Pro) rs1178481595 0.00001
NM_000551.4(VHL):c.93G>C (p.Glu31Asp) rs1438911242 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
NC_000003.11:g.(?_10183471)_(10191719_?)dup
NC_000003.11:g.(?_10183522)_(10188330_?)dup
NC_000003.11:g.(?_10183532)_(10184708_?)dup
NC_000003.11:g.(?_10183532)_(10188330_?)dup
NC_000003.11:g.(?_10191461)_(10191719_?)dup
NC_000003.12:g.(?_10141848)_(10142197_?)dup
NC_000003.12:g.(?_10141848)_(10150035_?)dup
NC_000003.12:g.(?_10146504)_(10149975_?)dup
NC_000003.12:g.10141762_10141816del
NM_000551.4(VHL):c.-39_-10del
NM_000551.4(VHL):c.-44G>A
NM_000551.4(VHL):c.-45C>A rs372483939
NM_000551.4(VHL):c.-45C>T
NM_000551.4(VHL):c.-48C>T
NM_000551.4(VHL):c.-49C>T
NM_000551.4(VHL):c.-51G>A
NM_000551.4(VHL):c.-61_-51dup rs727503743
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.103_117dup (p.Ala35_Gly39dup) rs1553619337
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.106G>A (p.Glu36Lys) rs1696121268
NM_000551.4(VHL):c.106G>T (p.Glu36Ter) rs1696121268
NM_000551.4(VHL):c.107_114del (p.Glu36fs)
NM_000551.4(VHL):c.108_122dup (p.38_42SGPEE[3]) rs1340164546
NM_000551.4(VHL):c.109G>T (p.Glu37Ter) rs1338996432
NM_000551.4(VHL):c.10A>G (p.Arg4Gly) rs886057702
NM_000551.4(VHL):c.10_11delinsTT (p.Arg4Leu) rs1575920840
NM_000551.4(VHL):c.112_156del (p.Ser38_Glu52del) rs1575921303
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>C (p.Gly39Ala)
NM_000551.4(VHL):c.116G>T (p.Gly39Val) rs368473853
NM_000551.4(VHL):c.118C>A (p.Pro40Thr)
NM_000551.4(VHL):c.118C>G (p.Pro40Ala) rs776399733
NM_000551.4(VHL):c.119C>A (p.Pro40Gln)
NM_000551.4(VHL):c.119C>G (p.Pro40Arg) rs200343185
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.122A>C (p.Glu41Ala)
NM_000551.4(VHL):c.122A>G (p.Glu41Gly)
NM_000551.4(VHL):c.122A>T (p.Glu41Val) rs1696122750
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.124G>C (p.Glu42Gln) rs1696122809
NM_000551.4(VHL):c.125A>C (p.Glu42Ala) rs1064796244
NM_000551.4(VHL):c.125A>G (p.Glu42Gly) rs1064796244
NM_000551.4(VHL):c.127T>C (p.Ser43Pro) rs1696123001
NM_000551.4(VHL):c.128C>G (p.Ser43Cys) rs202164771
NM_000551.4(VHL):c.130G>A (p.Gly44Ser) rs1575921446
NM_000551.4(VHL):c.130G>C (p.Gly44Arg) rs1575921446
NM_000551.4(VHL):c.130G>T (p.Gly44Cys)
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.133C>G (p.Pro45Ala) rs1575921452
NM_000551.4(VHL):c.133C>T (p.Pro45Ser)
NM_000551.4(VHL):c.134C>T (p.Pro45Leu) rs199583685
NM_000551.4(VHL):c.137A>C (p.Glu46Ala)
NM_000551.4(VHL):c.138G>T (p.Glu46Asp)
NM_000551.4(VHL):c.138_160del (p.Glu46fs) rs1209079089
NM_000551.4(VHL):c.139G>T (p.Glu47Ter) rs1457039250
NM_000551.4(VHL):c.13G>A (p.Ala5Thr)
NM_000551.4(VHL):c.13G>C (p.Ala5Pro) rs1559425498
NM_000551.4(VHL):c.13G>T (p.Ala5Ser) rs1559425498
NM_000551.4(VHL):c.142C>A (p.Leu48Met)
NM_000551.4(VHL):c.143T>A (p.Leu48Gln) rs199959170
NM_000551.4(VHL):c.145G>C (p.Gly49Arg) rs1696124265
NM_000551.4(VHL):c.146G>A (p.Gly49Asp) rs1252338161
NM_000551.4(VHL):c.146G>T (p.Gly49Val) rs1252338161
NM_000551.4(VHL):c.148G>A (p.Ala50Thr) rs1696124466
NM_000551.4(VHL):c.148G>C (p.Ala50Pro) rs1696124466
NM_000551.4(VHL):c.149C>G (p.Ala50Gly) rs766576246
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.151G>C (p.Glu51Gln) 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.158A>G (p.Glu53Gly) rs2125124854
NM_000551.4(VHL):c.159G>C (p.Glu53Asp) rs1553619385
NM_000551.4(VHL):c.163G>C (p.Glu55Gln) rs2125124873
NM_000551.4(VHL):c.164A>G (p.Glu55Gly) rs1328776664
NM_000551.4(VHL):c.164A>T (p.Glu55Val)
NM_000551.4(VHL):c.165G>T (p.Glu55Asp)
NM_000551.4(VHL):c.166G>A (p.Ala56Thr)
NM_000551.4(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.4(VHL):c.169G>A (p.Gly57Arg) rs1064795194
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.16G>C (p.Glu6Gln)
NM_000551.4(VHL):c.16G>T (p.Glu6Ter) rs545406510
NM_000551.4(VHL):c.170G>C (p.Gly57Ala) rs764755691
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.176C>A (p.Pro59Gln) rs1696126408
NM_000551.4(VHL):c.176C>T (p.Pro59Leu)
NM_000551.4(VHL):c.178C>G (p.Arg60Gly) rs1035077469
NM_000551.4(VHL):c.178C>T (p.Arg60Trp) rs1035077469
NM_000551.4(VHL):c.179G>C (p.Arg60Pro) rs1696126647
NM_000551.4(VHL):c.179G>T (p.Arg60Leu) rs1696126647
NM_000551.4(VHL):c.17A>C (p.Glu6Ala) rs1696114029
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.182C>G (p.Pro61Arg) rs746582207
NM_000551.4(VHL):c.184G>A (p.Val62Met) rs747861291
NM_000551.4(VHL):c.185T>A (p.Val62Glu) rs1696127941
NM_000551.4(VHL):c.185T>C (p.Val62Ala) rs1696127941
NM_000551.4(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.4(VHL):c.18G>C (p.Glu6Asp)
NM_000551.4(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.4(VHL):c.191G>A (p.Arg64His) rs104893826
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.200A>C (p.Asn67Thr)
NM_000551.4(VHL):c.200A>G (p.Asn67Ser)
NM_000551.4(VHL):c.201C>G (p.Asn67Lys)
NM_000551.4(VHL):c.205C>T (p.Arg69Cys) rs1428175816
NM_000551.4(VHL):c.206G>T (p.Arg69Leu) rs1171336955
NM_000551.4(VHL):c.209A>C (p.Glu70Ala)
NM_000551.4(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.4(VHL):c.20A>C (p.Asn7Thr) rs1575920892
NM_000551.4(VHL):c.20A>G (p.Asn7Ser) rs1575920892
NM_000551.4(VHL):c.20A>T (p.Asn7Ile) rs1575920892
NM_000551.4(VHL):c.210G>T (p.Glu70Asp) rs1553619417
NM_000551.4(VHL):c.211C>T (p.Pro71Ser) rs1696129801
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.218A>T (p.Gln73Leu) rs1295818809
NM_000551.4(VHL):c.219G>C (p.Gln73His) rs1575921862
NM_000551.4(VHL):c.21C>G (p.Asn7Lys) rs1060503561
NM_000551.4(VHL):c.220G>C (p.Val74Leu) rs2125125032
NM_000551.4(VHL):c.221T>C (p.Val74Ala) rs5030803
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.229T>C (p.Cys77Arg) rs1269136170
NM_000551.4(VHL):c.22T>G (p.Trp8Gly) rs1352171735
NM_000551.4(VHL):c.22_27dup (p.Trp8_Asp9dup) rs1696114336
NM_000551.4(VHL):c.230G>A (p.Cys77Tyr)
NM_000551.4(VHL):c.230G>C (p.Cys77Ser) rs1696131797
NM_000551.4(VHL):c.230G>T (p.Cys77Phe)
NM_000551.4(VHL):c.235C>A (p.Arg79Ser)
NM_000551.4(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.4(VHL):c.236G>T (p.Arg79Leu)
NM_000551.4(VHL):c.238_246del (p.Ser80_Arg82del) rs1696132295
NM_000551.4(VHL):c.23G>A (p.Trp8Ter) rs1060503551
NM_000551.4(VHL):c.23G>T (p.Trp8Leu) rs1060503551
NM_000551.4(VHL):c.241C>G (p.Pro81Ala) rs104893829
NM_000551.4(VHL):c.244C>T (p.Arg82Cys) rs1214305423
NM_000551.4(VHL):c.247G>A (p.Val83Ile)
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.254T>C (p.Leu85Pro) rs5030828
NM_000551.4(VHL):c.259G>A (p.Val87Ile)
NM_000551.4(VHL):c.25G>C (p.Asp9His) rs587780730
NM_000551.4(VHL):c.269A>C (p.Asn90Thr) rs143985153
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.26A>G (p.Asp9Gly) rs1060503560
NM_000551.4(VHL):c.26A>T (p.Asp9Val)
NM_000551.4(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.4(VHL):c.274G>A (p.Asp92Asn) rs587780731
NM_000551.4(VHL):c.275A>C (p.Asp92Ala) rs749091984
NM_000551.4(VHL):c.276C>G (p.Asp92Glu) rs1442093467
NM_000551.4(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.4(VHL):c.279C>T (p.Gly93=) rs1696136079
NM_000551.4(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.27C>G (p.Asp9Glu) rs1017141110
NM_000551.4(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.4(VHL):c.281A>T (p.Glu94Val)
NM_000551.4(VHL):c.282G>T (p.Glu94Asp)
NM_000551.4(VHL):c.283C>T (p.Pro95Ser) rs1376530057
NM_000551.4(VHL):c.286_288delinsACC (p.Gln96Thr) rs2125125241
NM_000551.4(VHL):c.288G>T (p.Gln96His) rs1553619446
NM_000551.4(VHL):c.289C>A (p.Pro97Thr) rs863224688
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.298A>C (p.Thr100Pro) rs745901803
NM_000551.4(VHL):c.299C>T (p.Thr100Met) rs1346874866
NM_000551.4(VHL):c.29A>C (p.Glu10Ala)
NM_000551.4(VHL):c.29A>G (p.Glu10Gly) rs786204065
NM_000551.4(VHL):c.29A>T (p.Glu10Val) rs786204065
NM_000551.4(VHL):c.2T>A (p.Met1Lys)
NM_000551.4(VHL):c.304C>T (p.Pro102Ser) rs532018719
NM_000551.4(VHL):c.305C>A (p.Pro102Gln) rs1379270197
NM_000551.4(VHL):c.305C>G (p.Pro102Arg)
NM_000551.4(VHL):c.307C>G (p.Pro103Ala) rs864622267
NM_000551.4(VHL):c.307C>T (p.Pro103Ser)
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.311G>C (p.Gly104Ala) rs869025630
NM_000551.4(VHL):c.313A>G (p.Thr105Ala)
NM_000551.4(VHL):c.314C>T (p.Thr105Met) rs761240835
NM_000551.4(VHL):c.319CGC[1] (p.Arg108del) rs869191373
NM_000551.4(VHL):c.31G>T (p.Ala11Ser) rs1236604706
NM_000551.4(VHL):c.323G>T (p.Arg108Leu)
NM_000551.4(VHL):c.327C>G (p.Ile109Met) rs863224371
NM_000551.4(VHL):c.328C>A (p.His110Asn)
NM_000551.4(VHL):c.329A>G (p.His110Arg) rs2125125380
NM_000551.4(VHL):c.330C>G (p.His110Gln) rs1696140667
NM_000551.4(VHL):c.337C>G (p.Arg113Gly) rs5030810
NM_000551.4(VHL):c.339A>C (p.Arg113=)
NM_000551.4(VHL):c.339A>G (p.Arg113=) rs2125125416
NM_000551.4(VHL):c.33_38dup (p.Val13_Gly14insGluVal)
NM_000551.4(VHL):c.340+3A>G rs1575922597
NM_000551.4(VHL):c.340+4C>G
NM_000551.4(VHL):c.340+4C>T rs2125125426
NM_000551.4(VHL):c.340+6G>A rs1278726013
NM_000551.4(VHL):c.34_35delinsTT (p.Glu12Leu) rs1696115662
NM_000551.4(VHL):c.35A>G (p.Glu12Gly) rs1380706798
NM_000551.4(VHL):c.36G>C (p.Glu12Asp) 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.38_52del (p.Val13_Glu17del) rs2125124488
NM_000551.4(VHL):c.38_52dup (p.Val13_Glu17dup) rs2125124488
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.40G>A (p.Gly14Ser) rs1060503559
NM_000551.4(VHL):c.41G>A (p.Gly14Asp) rs1575921044
NM_000551.4(VHL):c.42C>T (p.Gly14=) rs1696116574
NM_000551.4(VHL):c.42_46del (p.Ala15fs) rs1301210563
NM_000551.4(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.4(VHL):c.44C>T (p.Ala15Val)
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>A (p.Glu17Lys) rs1028898216
NM_000551.4(VHL):c.49G>T (p.Glu17Ter) rs1028898216
NM_000551.4(VHL):c.4C>A (p.Pro2Thr)
NM_000551.4(VHL):c.51G>T (p.Glu17Asp) rs2125124538
NM_000551.4(VHL):c.52del (p.Ala18fs) rs1696117244
NM_000551.4(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.4(VHL):c.55G>C (p.Gly19Arg) rs1382387188
NM_000551.4(VHL):c.56G>T (p.Gly19Val) rs2125124549
NM_000551.4(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.4(VHL):c.58G>C (p.Val20Leu)
NM_000551.4(VHL):c.59T>A (p.Val20Asp) rs929332564
NM_000551.4(VHL):c.59T>C (p.Val20Ala) rs929332564
NM_000551.4(VHL):c.5C>A (p.Pro2His)
NM_000551.4(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.4(VHL):c.61G>A (p.Glu21Lys) rs2125124562
NM_000551.4(VHL):c.61G>C (p.Glu21Gln)
NM_000551.4(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.4(VHL):c.62A>T (p.Glu21Val) rs1060503548
NM_000551.4(VHL):c.64G>A (p.Glu22Lys) rs1696118115
NM_000551.4(VHL):c.65A>G (p.Glu22Gly) rs2125124570
NM_000551.4(VHL):c.67T>A (p.Tyr23Asn)
NM_000551.4(VHL):c.67T>C (p.Tyr23His) rs1696118253
NM_000551.4(VHL):c.67T>G (p.Tyr23Asp) rs1696118253
NM_000551.4(VHL):c.68A>G (p.Tyr23Cys)
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.4(VHL):c.70G>A (p.Gly24Ser) rs1438223626
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.71G>T (p.Gly24Val) rs878854129
NM_000551.4(VHL):c.75_119del (p.Asp28_Glu42del)
NM_000551.4(VHL):c.76G>C (p.Glu26Gln)
NM_000551.4(VHL):c.77A>G (p.Glu26Gly)
NM_000551.4(VHL):c.7C>G (p.Arg3Gly) rs878854130
NM_000551.4(VHL):c.80A>C (p.Glu27Ala)
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.82G>C (p.Asp28His) rs1553619319
NM_000551.4(VHL):c.83A>T (p.Asp28Val) rs2125124629
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.4(VHL):c.85G>A (p.Gly29Ser)
NM_000551.4(VHL):c.85G>C (p.Gly29Arg) rs1277221408
NM_000551.4(VHL):c.85G>T (p.Gly29Cys)
NM_000551.4(VHL):c.86G>C (p.Gly29Ala) rs1553619321
NM_000551.4(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.4(VHL):c.88G>C (p.Gly30Arg) rs913104799
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.92A>G (p.Glu31Gly)
NM_000551.4(VHL):c.93_122dup (p.Ala35_Gly44dup) rs1696119887
NM_000551.4(VHL):c.94G>A (p.Glu32Lys)
NM_000551.4(VHL):c.97T>A (p.Ser33Thr) rs868726923
NM_000551.4(VHL):c.97T>G (p.Ser33Ala)
NM_000551.4(VHL):c.97del (p.Ser33fs) rs2125124691
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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