ClinVar Miner

List of variants in gene VHL studied for Chuvash polycythemia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP
NC_000003.11:g.(?_10183319)_(10183871_?)del
NC_000003.11:g.(?_10183522)_(10183881_?)del
NM_000551.3(VHL):c.-73C>T
NM_000551.3(VHL):c.103_117dup (p.Ala35_Gly39dup) rs1553619337
NM_000551.3(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.3(VHL):c.104C>T (p.Ala35Val) rs587780536
NM_000551.3(VHL):c.105C>G (p.Ala35=) rs1310829877
NM_000551.3(VHL):c.108G>A (p.Glu36=) rs1553619344
NM_000551.3(VHL):c.112_156dup (p.Ser38_Glu52dup)
NM_000551.3(VHL):c.113C>T (p.Ser38Phe)
NM_000551.3(VHL):c.114C>T (p.Ser38=) rs417164
NM_000551.3(VHL):c.115G>C (p.Gly39Arg) rs768650092
NM_000551.3(VHL):c.116G>A (p.Gly39Asp) rs368473853
NM_000551.3(VHL):c.117C>T (p.Gly39=) rs1057521552
NM_000551.3(VHL):c.119C>T (p.Pro40Leu) rs200343185
NM_000551.3(VHL):c.123_137del (p.38_42SGPEE[1]) rs863224839
NM_000551.3(VHL):c.123_137dup (p.38_42SGPEE[3]) rs863224839
NM_000551.3(VHL):c.12G>A (p.Arg4=) rs1553619274
NM_000551.3(VHL):c.130G>A (p.Gly44Ser)
NM_000551.3(VHL):c.133C>G (p.Pro45Ala)
NM_000551.3(VHL):c.134C>G (p.Pro45Arg) rs199583685
NM_000551.3(VHL):c.134C>T (p.Pro45Leu)
NM_000551.3(VHL):c.135G>A (p.Pro45=) rs773519476
NM_000551.3(VHL):c.139G>A (p.Glu47Lys)
NM_000551.3(VHL):c.13G>C (p.Ala5Pro) rs1559425498
NM_000551.3(VHL):c.143T>G (p.Leu48Arg) rs199959170
NM_000551.3(VHL):c.14C>T (p.Ala5Val) rs755333116
NM_000551.3(VHL):c.150C>A (p.Ala50=) rs61751580
NM_000551.3(VHL):c.150C>G (p.Ala50=) rs61751580
NM_000551.3(VHL):c.151G>A (p.Glu51Lys)
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.3(VHL):c.159G>A (p.Glu53=) rs1553619385
NM_000551.3(VHL):c.164A>G (p.Glu55Gly) rs1328776664
NM_000551.3(VHL):c.167C>G (p.Ala56Gly) rs752980085
NM_000551.3(VHL):c.167C>T (p.Ala56Val) rs752980085
NM_000551.3(VHL):c.168C>T (p.Ala56=) rs864622714
NM_000551.3(VHL):c.169G>C (p.Gly57Arg) rs1064795194
NM_000551.3(VHL):c.169G>T (p.Gly57Trp)
NM_000551.3(VHL):c.170G>C (p.Gly57Ala) rs764755691
NM_000551.3(VHL):c.172C>A (p.Arg58=) rs757781272
NM_000551.3(VHL):c.172C>T (p.Arg58Trp) rs757781272
NM_000551.3(VHL):c.175C>T (p.Pro59Ser) rs876659041
NM_000551.3(VHL):c.178C>G (p.Arg60Gly) rs1035077469
NM_000551.3(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.3(VHL):c.181C>G (p.Pro61Ala) rs113612866
NM_000551.3(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.3(VHL):c.182C>G (p.Pro61Arg)
NM_000551.3(VHL):c.182C>T (p.Pro61Leu) rs746582207
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.18G>T (p.Glu6Asp) rs1004620245
NM_000551.3(VHL):c.191G>A (p.Arg64His) rs104893826
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.192C>T (p.Arg64=) rs1012545817
NM_000551.3(VHL):c.195G>C (p.Ser65=) rs1553619409
NM_000551.3(VHL):c.1A>T (p.Met1Leu) rs1060503557
NM_000551.3(VHL):c.205C>G (p.Arg69Gly) rs1428175816
NM_000551.3(VHL):c.207C>T (p.Arg69=) rs1060503550
NM_000551.3(VHL):c.209A>G (p.Glu70Gly) rs786202857
NM_000551.3(VHL):c.20A>C (p.Asn7Thr)
NM_000551.3(VHL):c.213C>T (p.Pro71=) rs201663073
NM_000551.3(VHL):c.216C>T (p.Ser72=) rs774557051
NM_000551.3(VHL):c.217C>G (p.Gln73Glu)
NM_000551.3(VHL):c.219G>C (p.Gln73His)
NM_000551.3(VHL):c.21C>A (p.Asn7Lys) rs1060503561
NM_000551.3(VHL):c.221T>C (p.Val74Ala) rs5030803
NM_000551.3(VHL):c.223A>C (p.Ile75Leu) rs1060503554
NM_000551.3(VHL):c.223A>G (p.Ile75Val)
NM_000551.3(VHL):c.224_226TCT[1] (p.Phe76del) rs5030648
NM_000551.3(VHL):c.225C>G (p.Ile75Met)
NM_000551.3(VHL):c.225C>T (p.Ile75=) rs768104793
NM_000551.3(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.3(VHL):c.22T>C (p.Trp8Arg) rs1352171735
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.235C>G (p.Arg79Gly) rs200885420
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.23G>A (p.Trp8Ter) rs1060503551
NM_000551.3(VHL):c.240T>C (p.Ser80=) rs1553619424
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.249C>G (p.Val83=) rs1271292937
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.251T>C (p.Val84Ala)
NM_000551.3(VHL):c.255G>T (p.Leu85=) rs876658508
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.3(VHL):c.25G>A (p.Asp9Asn) rs587780730
NM_000551.3(VHL):c.25G>C (p.Asp9His)
NM_000551.3(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.3(VHL):c.264G>C (p.Trp88Cys)
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.265C>T (p.Leu89Phe)
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.269A>C (p.Asn90Thr) rs143985153
NM_000551.3(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000551.3(VHL):c.26A>C (p.Asp9Ala) rs1060503560
NM_000551.3(VHL):c.273C>A (p.Phe91Leu) rs1060503563
NM_000551.3(VHL):c.275A>T (p.Asp92Val) rs749091984
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.277_294del (p.Gly93_Tyr98del) rs1559426059
NM_000551.3(VHL):c.278_279delinsTT (p.Gly93Val) rs1559426072
NM_000551.3(VHL):c.27C>A (p.Asp9Glu) rs1017141110
NM_000551.3(VHL):c.27C>T (p.Asp9=) rs1017141110
NM_000551.3(VHL):c.280G>A (p.Glu94Lys) rs5030829
NM_000551.3(VHL):c.283C>T (p.Pro95Ser)
NM_000551.3(VHL):c.284C>T (p.Pro95Leu)
NM_000551.3(VHL):c.289C>A (p.Pro97Thr) rs863224688
NM_000551.3(VHL):c.28G>A (p.Glu10Lys) rs1057519261
NM_000551.3(VHL):c.291C>G (p.Pro97=) rs1805159
NM_000551.3(VHL):c.291C>T (p.Pro97=) rs1805159
NM_000551.3(VHL):c.291_302del (p.Tyr98_Leu101del)
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.296C>G (p.Pro99Arg) rs1553619452
NM_000551.3(VHL):c.297A>C (p.Pro99=) rs774753107
NM_000551.3(VHL):c.298A>G (p.Thr100Ala) rs745901803
NM_000551.3(VHL):c.299C>T (p.Thr100Met)
NM_000551.3(VHL):c.305C>T (p.Pro102Leu)
NM_000551.3(VHL):c.30G>C (p.Glu10Asp)
NM_000551.3(VHL):c.30G>T (p.Glu10Asp) rs963501454
NM_000551.3(VHL):c.311G>C (p.Gly104Ala) rs869025630
NM_000551.3(VHL):c.312C>T (p.Gly104=) rs946898891
NM_000551.3(VHL):c.315G>A (p.Thr105=) rs769102979
NM_000551.3(VHL):c.315G>C (p.Thr105=) rs769102979
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.319_321CGC[1] (p.Arg108del)
NM_000551.3(VHL):c.31G>C (p.Ala11Pro) rs1236604706
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.323G>A (p.Arg108His) rs367594943
NM_000551.3(VHL):c.324C>T (p.Arg108=) rs878854124
NM_000551.3(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.3(VHL):c.333C>T (p.Ser111=) rs765978945
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.3(VHL):c.338G>C (p.Arg113Pro) rs767062290
NM_000551.3(VHL):c.339_340+5del
NM_000551.3(VHL):c.340+3A>G
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.340+6G>A
NM_000551.3(VHL):c.340G>A (p.Gly114Ser)
NM_000551.3(VHL):c.34G>C (p.Glu12Gln) rs1064794788
NM_000551.3(VHL):c.36G>C (p.Glu12Asp) rs973493604
NM_000551.3(VHL):c.37G>A (p.Val13Ile) rs919338576
NM_000551.3(VHL):c.38T>G (p.Val13Gly) rs1553619289
NM_000551.3(VHL):c.3G>A (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.3G>C (p.Met1Ile)
NM_000551.3(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.3(VHL):c.40G>C (p.Gly14Arg) rs1060503559
NM_000551.3(VHL):c.41G>A (p.Gly14Asp)
NM_000551.3(VHL):c.43G>A (p.Ala15Thr) rs1060503568
NM_000551.3(VHL):c.45G>A (p.Ala15=) rs563813895
NM_000551.3(VHL):c.46G>C (p.Glu16Gln) rs1060503556
NM_000551.3(VHL):c.46G>T (p.Glu16Ter) rs1060503556
NM_000551.3(VHL):c.47A>C (p.Glu16Ala) rs864622379
NM_000551.3(VHL):c.48G>A (p.Glu16=) rs1057522140
NM_000551.3(VHL):c.48G>C (p.Glu16Asp) rs1057522140
NM_000551.3(VHL):c.4C>T (p.Pro2Ser)
NM_000551.3(VHL):c.53C>T (p.Ala18Val) rs1553619302
NM_000551.3(VHL):c.54A>C (p.Ala18=) rs1305687580
NM_000551.3(VHL):c.57C>A (p.Gly19=) rs1453582828
NM_000551.3(VHL):c.57del (p.Val20fs) rs1553619308
NM_000551.3(VHL):c.5C>G (p.Pro2Arg) rs111246617
NM_000551.3(VHL):c.5C>T (p.Pro2Leu) rs111246617
NM_000551.3(VHL):c.60C>G (p.Val20=) rs1553619311
NM_000551.3(VHL):c.62A>C (p.Glu21Ala) rs1060503548
NM_000551.3(VHL):c.62A>T (p.Glu21Val)
NM_000551.3(VHL):c.6C>G (p.Pro2=) rs1014417508
NM_000551.3(VHL):c.70G>A (p.Gly24Ser)
NM_000551.3(VHL):c.70G>T (p.Gly24Cys) rs1438223626
NM_000551.3(VHL):c.71G>A (p.Gly24Asp) rs878854129
NM_000551.3(VHL):c.72C>A (p.Gly24=) rs1375079282
NM_000551.3(VHL):c.73C>G (p.Pro25Ala) rs745338799
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.3(VHL):c.75T>C (p.Pro25=) rs1553619317
NM_000551.3(VHL):c.7C>T (p.Arg3Trp) rs878854130
NM_000551.3(VHL):c.82G>A (p.Asp28Asn) rs1553619319
NM_000551.3(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.3(VHL):c.85G>C (p.Gly29Arg)
NM_000551.3(VHL):c.86G>C (p.Gly29Ala) rs1553619321
NM_000551.3(VHL):c.86_87delinsTT (p.Gly29Val) rs879254115
NM_000551.3(VHL):c.87C>T (p.Gly29=) rs987301475
NM_000551.3(VHL):c.88G>A (p.Gly30Arg)
NM_000551.3(VHL):c.89G>A (p.Gly30Glu) rs1064793290
NM_000551.3(VHL):c.89G>C (p.Gly30Ala)
NM_000551.3(VHL):c.8G>C (p.Arg3Pro) rs1178481595
NM_000551.3(VHL):c.91G>T (p.Glu31Ter) rs1214275235
NM_000551.3(VHL):c.95A>G (p.Glu32Gly) rs786203104
NM_000551.3(VHL):c.98C>A (p.Ser33Ter)
NM_000551.3(VHL):c.99G>C (p.Ser33=) rs912159589

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