ClinVar Miner

List of variants in gene combination APIP, PDHX reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_001135024.1(PDHX):c.13G>A (p.Gly5Ser) rs2956111
NM_015957.4(APIP):c.-53C>T rs2956113
NM_015957.4(APIP):c.-70T>C rs2956112
NM_015957.4(APIP):c.19C>T (p.Arg7Trp) rs2956114
NM_015957.4(APIP):c.57+77C>T rs16926448
NM_015957.4(APIP):c.57+78A>G rs2016814

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