ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by SIB Swiss Institute of Bioinformatics

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.472A>G (p.Asn158Asp) rs148639841
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134

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