ClinVar Miner

List of variants in gene PEX12 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: 6
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NM_000286.3(PEX12):c.126+1G>T rs144259891
NM_000286.3(PEX12):c.538C>T (p.Arg180Ter) rs61752103
NM_000286.3(PEX12):c.604C>T (p.Arg202Ter) rs61752105
NM_000286.3(PEX12):c.730_733dup (p.Leu245fs) rs61752107
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108
NM_000286.3(PEX12):c.886_887CT[1] (p.Leu297fs) rs398123301

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