ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Clinical Genomics Laboratory, Washington University in St. Louis

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_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_005035.4(POLRMT):c.1331C>T (p.Ala444Val)
NM_005035.4(POLRMT):c.3073G>A (p.Val1025Met)

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