List of variants reported as pathogenic for 3-methylglutaconic aciduria type 9

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)	rs1300848445	0.00001
NM_001001563.5(TIMM50):c.341G>A (p.Arg114Gln)	rs778355943	0.00001
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)	rs1305711807	0.00001
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)	rs1449758112	0.00001
NM_001001563.5(TIMM50):c.260G>C (p.Gly87Ala)	rs776019250
NM_001001563.5(TIMM50):c.26C>A (p.Ser9Ter)	rs35135520
NM_001001563.5(TIMM50):c.337C>T (p.Arg113Cys)
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)	rs1244226820
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)	rs797044891

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