ClinVar Miner

List of variants reported as pathogenic for 3-methylglutaconic aciduria type 9 by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_001001563.4(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.4(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112

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