ClinVar Miner

List of variants in gene ATPAF2, LOC130060411 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_145691.4(ATPAF2):c.-147G>A rs75249497 0.00513
NM_145691.4(ATPAF2):c.-90C>A rs113286105 0.00040
NM_145691.4(ATPAF2):c.-85C>T rs533220549 0.00033
NM_145691.4(ATPAF2):c.-107G>A rs371822840 0.00029
NM_145691.4(ATPAF2):c.-107G>T rs371822840

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