ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350

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