ClinVar Miner

List of variants reported as likely benign for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 by Natera, Inc.

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380

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