List of variants in gene TIMMDC1 reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 31

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala)	rs200592275	0.00002
NM_016589.4(TIMMDC1):c.-2C>T	rs562405336	0.00001
NM_016589.4(TIMMDC1):c.361-5T>G	rs531927123
NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)	rs750461248

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