ClinVar Miner

List of variants in gene SLC25A1 reported as pathogenic for 2-hydroxyglutaric aciduria

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_005984.5(SLC25A1):c.389G>A (p.Gly130Asp) rs368647424
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val) rs483352910
NM_005984.5(SLC25A1):c.844C>G (p.Arg282Gly) rs431905509
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys) rs431905509
NM_005984.5(SLC25A1):c.845G>A (p.Arg282His) rs431905510

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