List of variants in gene TIMM50 reported as uncertain significance for 3-methylglutaconic aciduria type 9

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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_001001563.5(TIMM50):c.1033C>T (p.Arg345Cys)	rs137968278	0.00005
NM_001001563.5(TIMM50):c.854-8G>C	rs1166132682	0.00001
NM_001001563.5(TIMM50):c.44T>G (p.Leu15Arg)
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)	rs2079507347
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)	rs2079508089

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