ClinVar Miner

List of variants in gene PDHX reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_001135024.1(PDHX):c.77C>T (p.Pro26Leu) rs555380381
NM_003477.3(PDHX):c.*114A>G rs76663700
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997

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