List of variants in gene TIMMDC1 studied 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
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_016589.4(TIMMDC1):c.597-35G>T	rs4461452	0.31250
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
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met)	rs370482859	0.00003
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.194+2T>C
NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)
NM_016589.4(TIMMDC1):c.361-5T>G	rs531927123
NM_016589.4(TIMMDC1):c.596+1del
NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)	rs750461248

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