ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.30T>C (p.Phe10=)	rs10747783	0.26055
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile)	rs62000432	0.00702
NM_005726.6(TSFM):c.5C>T (p.Ser2Leu)	rs35957924	0.00698

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