ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 31

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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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