ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851

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