ClinVar Miner

List of variants in gene VHL reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (916):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.3(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.3(VHL):c.193T>G (p.Ser65Ala) rs869025616
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
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.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
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.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.266T>A (p.Leu89His) rs5030807
NM_000551.3(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.3(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.311_340+20del rs869025629
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.340+1G>C rs730882032

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