ClinVar Miner

List of variants in gene ATIC studied for AICA-ribosiduria

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Total variants: 9
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HGVS dbSNP
ATIC, 125-129DUP, 130-132DEL
NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys) rs755898039
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) rs121434478
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter) rs1389373911
NM_004044.7(ATIC):c.1751A>G (p.His584Arg) rs201429123
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) rs2372536
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004044.7(ATIC):c.548C>A (p.Ala183Glu) rs761526509
NM_004044.7(ATIC):c.794del (p.Phe265fs) rs754173354

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