ClinVar Miner

List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 31

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016589.4(TIMMDC1):c.597-1340A>G	rs781525096	0.00011
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His)	rs142096113	0.00006
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter)	rs970547270	0.00005

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