ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_017909.4(RMND1):c.504+1G>A rs1562800908
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg) rs1399346230
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)

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