ClinVar Miner

List of variants reported as likely pathogenic for classic organic aciduria by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969

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