ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000282.4(PCCA):c.1209+3A>G rs1467680142
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_022132.5(MCCC2):c.1216+2T>A
NM_022132.5(MCCC2):c.913G>T (p.Glu305Ter)

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