ClinVar Miner

List of variants in gene VHL reported as pathogenic for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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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.163dup (p.Glu55fs) rs869025615
NM_000551.3(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.3(VHL):c.179_192del (p.Arg60fs) rs1064796408
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.189_192del (p.Arg64_Ser65insTer) rs869025647
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.193T>C (p.Ser65Pro) rs869025616
NM_000551.3(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.3(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.3(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.3(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.3(VHL):c.206dup (p.Glu70fs) rs1553619415
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.3(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.3(VHL):c.221del (p.Val74fs) rs869025620
NM_000551.3(VHL):c.224_226TCT[1] (p.Phe76del) rs5030648
NM_000551.3(VHL):c.226_227del (p.Phe76fs) rs1060503552
NM_000551.3(VHL):c.232A>C (p.Asn78His) rs869025621
NM_000551.3(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.3(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.233del (p.Asn78fs) rs1559425925
NM_000551.3(VHL):c.238A>C (p.Ser80Arg) rs786202787
NM_000551.3(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.3(VHL):c.239_261del (p.Ser80fs) rs1559425951
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.3(VHL):c.245G>T (p.Arg82Leu) rs794726890
NM_000551.3(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.3(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.3(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.3(VHL):c.258dup (p.Val87fs) rs864622545
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.263G>A (p.Trp88Ter) rs119103277
NM_000551.3(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.3(VHL):c.264G>C (p.Trp88Cys)
NM_000551.3(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.3(VHL):c.269del (p.Asn90fs) rs869025623
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.277G>T (p.Gly93Cys) rs5030808
NM_000551.3(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.3(VHL):c.278del (p.Gly93fs) rs1131690964
NM_000551.3(VHL):c.280G>T (p.Glu94Ter)
NM_000551.3(VHL):c.292T>C (p.Tyr98His) rs5030809
NM_000551.3(VHL):c.292_295del (p.Tyr98fs) rs1559426095
NM_000551.3(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.3(VHL):c.293dup (p.Tyr98Ter) rs869025624
NM_000551.3(VHL):c.294C>G (p.Tyr98Ter) rs1559426115
NM_000551.3(VHL):c.296dup (p.Thr100fs) rs869025625
NM_000551.3(VHL):c.300dup (p.Leu101fs) rs869025626
NM_000551.3(VHL):c.304_305dup (p.Pro103fs) rs1559426145
NM_000551.3(VHL):c.309del (p.Gly104fs) rs869025627
NM_000551.3(VHL):c.309dup (p.Gly104fs) rs869025628
NM_000551.3(VHL):c.313A>C (p.Thr105Pro) rs1553619461
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.3(VHL):c.331A>T (p.Ser111Cys) rs1559426203
NM_000551.3(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.3(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.3(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.3(VHL):c.335_340+5del11 rs869025632
NM_000551.3(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.3(VHL):c.339_340+5del
NM_000551.3(VHL):c.340+1G>A rs730882032
NM_000551.3(VHL):c.340+2_340+6del rs869025634
NM_000551.3(VHL):c.340G>A (p.Gly114Ser)
NM_000551.3(VHL):c.340G>C (p.Gly114Arg) rs869025636
NM_198156.3(VHL):c.223_225del (p.Ile75del) rs794729660

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