ClinVar Miner

List of variants studied for classic organic aciduria by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs) rs1557194525
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851

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