ClinVar Miner

List of variants in gene AGK reported as benign for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018238.4(AGK):c.*1175C>T rs71545336 0.02792
NM_018238.4(AGK):c.*141C>T rs6943245 0.01947
NM_018238.4(AGK):c.*320G>A rs3735282 0.01469
NM_018238.4(AGK):c.*1210A>T rs184938991 0.00966
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_018238.4(AGK):c.101+5C>T rs150421355 0.00346
NM_018238.4(AGK):c.518+18G>A rs192082201 0.00235
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_018238.4(AGK):c.297+18A>G rs138364626 0.00225
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.1046+13G>C
NM_018238.4(AGK):c.142-10del
NM_018238.4(AGK):c.424-3del
NM_018238.4(AGK):c.424-3dup rs201762775
NM_018238.4(AGK):c.424-4C>A rs113085050
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.669-6del
NM_018238.4(AGK):c.975+16dup

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