ClinVar Miner

List of variants studied for cataract 38 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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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.*1024C>T rs78124534 0.00609
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_018238.4(AGK):c.*933C>T rs73171606 0.00289
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_018238.4(AGK):c.*992G>A rs191308473 0.00172
NM_018238.4(AGK):c.803C>A (p.Thr268Asn) rs142779190 0.00115
NM_018238.4(AGK):c.*621T>C rs192654792 0.00060
NM_018238.4(AGK):c.743A>C (p.His248Pro) rs150160397 0.00051
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_018238.4(AGK):c.*197C>T rs987287830 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_018238.4(AGK):c.877+14C>T rs41275003 0.00041
NM_018238.4(AGK):c.1131+11A>G rs202069684 0.00038
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_018238.4(AGK):c.*1467T>C rs140297904 0.00022
NM_018238.4(AGK):c.742C>T (p.His248Tyr) rs78219214 0.00021
NM_018238.4(AGK):c.*1301C>T rs553433680 0.00019
NM_018238.4(AGK):c.727-9C>T rs199977261 0.00017
NM_018238.4(AGK):c.*1127C>A rs886062027 0.00013
NM_018238.4(AGK):c.26G>A (p.Arg9Gln) rs577821330 0.00013
NM_018238.4(AGK):c.*1237G>A rs202211411 0.00010
NM_018238.4(AGK):c.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_018238.4(AGK):c.-14-3T>C rs371437227 0.00009
NM_018238.4(AGK):c.*1126T>A rs1269074943 0.00008
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018238.4(AGK):c.684G>A (p.Gly228=) rs150732826 0.00005
NM_018238.4(AGK):c.55C>T (p.Leu19Phe) rs367844999 0.00004
NM_018238.4(AGK):c.*241A>G rs914935906 0.00003
NM_018238.4(AGK):c.*1319G>A rs535922151 0.00002
NM_018238.4(AGK):c.*758T>C rs1345762130 0.00002
NM_018238.4(AGK):c.-36G>A rs570988835 0.00002
NM_018238.4(AGK):c.*1067T>G rs1797627785 0.00001
NM_018238.4(AGK):c.*125C>T rs1211083355 0.00001
NM_018238.4(AGK):c.*265G>A rs886062022 0.00001
NM_018238.4(AGK):c.*58G>A rs562245960 0.00001
NM_018238.4(AGK):c.*662A>G rs760797830 0.00001
NM_018238.4(AGK):c.*97G>T rs1474393370 0.00001
NM_018238.4(AGK):c.297+3A>G rs972525482 0.00001
NM_018238.4(AGK):c.511A>G (p.Lys171Glu) rs771035261 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018238.4(AGK):c.637T>C (p.Ser213Pro) rs886062019 0.00001
NM_018238.4(AGK):c.863C>T (p.Ala288Val) rs763068104 0.00001
NM_018238.4(AGK):c.*1006T>C rs1387554008
NM_018238.4(AGK):c.*231C>T rs1797606303
NM_018238.4(AGK):c.*364C>G rs368718308
NM_018238.4(AGK):c.*365G>A rs886062024
NM_018238.4(AGK):c.*754G>A rs1797619409
NM_018238.4(AGK):c.*967T>C rs886062026
NM_018238.4(AGK):c.1098C>T (p.Leu366=) rs369042931
NM_018238.4(AGK):c.217A>G (p.Lys73Glu) rs1796233762
NM_018238.4(AGK):c.355A>G (p.Ile119Val) rs180770509
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.763A>G (p.Thr255Ala) rs886062020
NM_018238.4(AGK):c.963G>A (p.Gln321=) rs746403177
NM_018238.4(AGK):c.976-9C>T rs746375297

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