ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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.1098+60C>G rs13002576
NM_004044.7(ATIC):c.380-19A>C rs2177737

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