ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation defect type 15 by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr) rs933296601 0.00021
NM_139242.4(MTFMT):c.419+3A>G rs182623063 0.00006
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys) rs760793624
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser) rs2086395834

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