ClinVar Miner

List of variants in gene TIMM50 reported as likely pathogenic 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001001563.5(TIMM50):c.884G>A (p.Arg295Gln)	rs760304945	0.00003
NM_001001563.5(TIMM50):c.328C>T (p.Gln110Ter)	rs1457024558	0.00001

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