ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000116.5(TAZ):c.836del (p.Thr279fs) rs1557194525

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