ClinVar Miner

List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 4 by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003321.5(TUFM):c.1348A>G (p.Lys450Glu)	rs199674838	0.00003
NM_003321.5(TUFM):c.100C>G (p.Leu34Val)	rs760020885	0.00001
NM_003321.5(TUFM):c.562G>A (p.Ala188Thr)	rs1167098942

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