ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Department of Genetics,Sultan Qaboos University Hospital, Oman

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000532.5(PCCB):c.184-49_188delinsTGCTTTGCTTGCTTTGCTTTGCTTT rs1559995259
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791

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