ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863

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