ClinVar Miner

List of variants in gene ATIC studied for AICA-ribosiduria

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004044.7(ATIC):c.1503+48A>T rs10932609 0.99971
NM_004044.7(ATIC):c.147-111A>T rs4672766 0.99970
NM_004044.7(ATIC):c.-218A>G rs78631308 0.96445
NM_004044.7(ATIC):c.1228-30A>G rs13010249 0.24885
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) rs2372536 0.24863
NM_004044.7(ATIC):c.-59T>G rs4535042 0.22285
NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp) rs76414987 0.00763
NM_004044.7(ATIC):c.1494C>G (p.Thr498=) rs116255553 0.00651
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val) rs76436141 0.00548
NM_004044.7(ATIC):c.380-18G>A rs190975135 0.00546
NM_004044.7(ATIC):c.5C>T (p.Ala2Val) rs138988481 0.00428
NM_004044.7(ATIC):c.1751A>G (p.His584Arg) rs201429123 0.00011
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) rs121434478 0.00002
NM_004044.7(ATIC):c.548C>A (p.Ala183Glu) rs761526509 0.00002
NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys) rs755898039 0.00001
NM_004044.7(ATIC):c.1474G>T (p.Asp492Tyr) rs771474223 0.00001
NM_004044.7(ATIC):c.1098+60C>G rs13002576
NM_004044.7(ATIC):c.131delinsGCA (p.Ala44fs)
NM_004044.7(ATIC):c.131delinsGGA (p.Ala44fs) rs2105985030
NM_004044.7(ATIC):c.1654A>T (p.Lys552Ter) rs1389373911
NM_004044.7(ATIC):c.380-19A>C rs2177737
NM_004044.7(ATIC):c.406G>A (p.Ala136Thr) rs1575116846
NM_004044.7(ATIC):c.794del (p.Phe265fs) rs754173354

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