ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of amino acid and other organic acid metabolism by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

Included ClinVar conditions (322):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu) rs781785267 0.00003
NM_005763.4(AASS):c.395G>A (p.Arg132His) rs761154340 0.00002
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_005763.4(AASS):c.3G>A (p.Met1Ile) rs779793755 0.00001
NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)
NM_000162.5(GCK):c.245C>T (p.Thr82Ile)
NM_001033044.4(GLUL):c.1075T>G (p.Cys359Gly) rs1650080437
NM_001918.5(DBT):c.1184C>T (p.Thr395Ile) rs1661797765
NM_054012.4(ASS1):c.553C>T (p.Leu185Phe)

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