ClinVar Miner

List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 25

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)	rs142609245	0.00116
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)	rs200800978	0.00016
NM_002491.3(NDUFB3):c.117del (p.Gly40_Leu41insTer)	rs2125534778

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