ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_003477.3(PDHX):c.1024-1G>A rs724159830
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) rs1135402725
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003477.3(PDHX):c.620del (p.Pro207fs) rs724159979
NM_003477.3(PDHX):c.641+1G>A rs724159829
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) rs113309941
NM_003477.3(PDHX):c.88_91del (p.Lys30fs) rs724159828
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) rs1554989996

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