ClinVar Miner

List of variants in gene ATIC reported as pathogenic for AICA-ribosiduria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 3
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ATIC, 125-129DUP, 130-132DEL
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) rs121434478
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter)

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