ClinVar Miner

List of variants studied for classic organic aciduria by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079

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