ClinVar Miner

List of variants in gene VHL studied for Von Hippel-Lindau syndrome

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Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_000551.3(VHL):c.-195G>A rs779805 0.56161
NM_000551.3(VHL):c.-77C>T rs3087462 0.02828
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
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_000551.3(VHL):c.-73C>T rs1034934219 0.00031
NM_000551.3(VHL):c.-188G>A rs966586600 0.00020
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.135G>A (p.Pro45=) rs773519476 0.00007
NM_000551.3(VHL):c.-207C>T rs886057698 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.119C>T (p.Pro40Leu) rs200343185 0.00004
NM_000551.4(VHL):c.167C>G (p.Ala56Gly) rs752980085 0.00004
NM_000551.4(VHL):c.114C>T (p.Ser38=) rs417164 0.00002
NM_000551.4(VHL):c.14C>T (p.Ala5Val) rs755333116 0.00002
NM_000551.3(VHL):c.-179G>A rs1466966053 0.00001
NM_000551.4(VHL):c.-35G>A rs587780992 0.00001
NM_000551.4(VHL):c.105C>G (p.Ala35=) rs1310829877 0.00001
NM_000551.4(VHL):c.10A>T (p.Arg4Trp) rs886057702 0.00001
NM_000551.4(VHL):c.172C>T (p.Arg58Trp) rs757781272 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.235C>T (p.Arg79Cys) rs200885420 0.00001
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) rs193922608 0.00001
NM_000551.4(VHL):c.258C>G (p.Pro86=) rs781063331 0.00001
NM_000551.4(VHL):c.275A>T (p.Asp92Val) rs749091984 0.00001
NM_000551.4(VHL):c.291C>G (p.Pro97=) rs1805159 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.71G>A (p.Gly24Asp) rs878854129 0.00001
NM_000551.4(VHL):c.99G>C (p.Ser33=) rs912159589 0.00001
NC_000003.11:g.10169230_10194915del
NC_000003.11:g.10170715_10188894del
NC_000003.11:g.10175778_10190168del
NC_000003.11:g.10175844_10187969del
NC_000003.11:g.10179846_10190051del
NC_000003.11:g.10180085_10190286del
NC_000003.11:g.10188894_10200033del
NC_000003.11:g.10189293_10201409del
NC_000003.11:g.10189323_10202010del
NC_000003.12:g.10140148_10140759del rs1696067154
NM_000551.3(VHL):c.-118C>T rs1696106670
NM_000551.3(VHL):c.-125C>A rs886057700
NM_000551.3(VHL):c.-166C>T rs886057699
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.-77_-32del rs1553619239
NM_000551.4(VHL):c.-26C>T rs775446934
NM_000551.4(VHL):c.-30C>T rs886057701
NM_000551.4(VHL):c.104C>A (p.Ala35Asp) rs587780536
NM_000551.4(VHL):c.11G>T (p.Arg4Met) rs886057703
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1]) rs863224839
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.170_177del (p.Gly57fs)
NM_000551.4(VHL):c.181C>T (p.Pro61Ser) rs113612866
NM_000551.4(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer) rs869025647
NM_000551.4(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.4(VHL):c.193T>C (p.Ser65Pro) rs869025616
NM_000551.4(VHL):c.193T>G (p.Ser65Ala) rs869025616
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.201C>A (p.Asn67Lys) rs769658318
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.4(VHL):c.206dup (p.Glu70fs) rs1553619415
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.4(VHL):c.213del (p.Ser72fs)
NM_000551.4(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.4(VHL):c.221del (p.Val74fs) rs869025620
NM_000551.4(VHL):c.222_225dup (p.Phe76fs)
NM_000551.4(VHL):c.223_225del (p.Ile75del) rs794729660
NM_000551.4(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.4(VHL):c.227T>C (p.Phe76Ser) rs730882033
NM_000551.4(VHL):c.232A>C (p.Asn78His) rs869025621
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.4(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.4(VHL):c.233del (p.Asn78fs) rs1559425925
NM_000551.4(VHL):c.238A>C (p.Ser80Arg) rs786202787
NM_000551.4(VHL):c.238A>G (p.Ser80Gly) rs786202787
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.239_261del (p.Ser80fs) rs1559425951
NM_000551.4(VHL):c.244C>G (p.Arg82Gly) rs1214305423
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.4(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.4(VHL):c.258dup (p.Val87fs) rs864622545
NM_000551.4(VHL):c.259_260del (p.Val87fs)
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.262T>C (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.4(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.4(VHL):c.269del (p.Asn90fs) rs869025623
NM_000551.4(VHL):c.271T>G (p.Phe91Val) rs1559426039
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.4(VHL):c.277G>T (p.Gly93Cys) rs5030808
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.278G>T (p.Gly93Val) rs1553619440
NM_000551.4(VHL):c.278del (p.Gly93fs) rs1131690964
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.4(VHL):c.284C>G (p.Pro95Arg) rs964996401
NM_000551.4(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.4(VHL):c.28G>T (p.Glu10Ter) rs1057519261
NM_000551.4(VHL):c.292T>A (p.Tyr98Asn)
NM_000551.4(VHL):c.292_295del (p.Tyr98fs) rs1559426095
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.293dup (p.Tyr98Ter) rs869025624
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter) rs1559426115
NM_000551.4(VHL):c.296dup (p.Thr100fs) rs869025625
NM_000551.4(VHL):c.300dup (p.Leu101fs) rs869025626
NM_000551.4(VHL):c.302T>G (p.Leu101Arg)
NM_000551.4(VHL):c.304_305dup (p.Pro103fs) rs1559426145
NM_000551.4(VHL):c.309del (p.Gly104fs) rs869025627
NM_000551.4(VHL):c.309dup (p.Gly104fs) rs869025628
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.311_340+20del rs869025629
NM_000551.4(VHL):c.313A>C (p.Thr105Pro) rs1553619461
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.321C>T (p.Arg107=) rs864622334
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)
NM_000551.4(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.332G>T (p.Ser111Ile) rs869025631
NM_000551.4(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.335_340+5del rs869025632
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+1G>C rs730882032
NM_000551.4(VHL):c.340+2_340+6del rs869025634
NM_000551.4(VHL):c.340+7G>C rs869025635
NM_000551.4(VHL):c.340+8C>T rs756068442
NM_000551.4(VHL):c.340G>C (p.Gly114Arg) rs869025636
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.47A>C (p.Glu16Ala) rs864622379
NM_000551.4(VHL):c.69C>A (p.Tyr23Ter) rs1553619313
NM_000551.4(VHL):c.83_100dup (p.Asp28_Ser33dup) rs1057517592
NM_000551.4(VHL):c.91G>T (p.Glu31Ter) rs1214275235
p.X214Trp

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