List of variants in gene AGK studied for cataract

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 237

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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.101+5C>T	rs150421355	0.00346
NM_018238.4(AGK):c.*933C>T	rs73171606	0.00289
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.*992G>A	rs191308473	0.00172
NM_018238.4(AGK):c.416C>G (p.Thr139Arg)	rs144706178	0.00166
NM_018238.4(AGK):c.29A>G (p.Asn10Ser)	rs35269563	0.00161
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.764C>T (p.Thr255Met)	rs112625649	0.00015
NM_018238.4(AGK):c.*1127C>A	rs886062027	0.00013
NM_018238.4(AGK):c.222-13C>T	rs374601217	0.00013
NM_018238.4(AGK):c.26G>A (p.Arg9Gln)	rs577821330	0.00013
NM_018238.4(AGK):c.852G>A (p.Ala284=)	rs183816817	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.445A>G (p.Ile149Val)	rs113986866	0.00009
NM_018238.4(AGK):c.*1126T>A	rs1269074943	0.00008
NM_018238.4(AGK):c.519-5T>C	rs755469922	0.00007
NM_018238.4(AGK):c.327C>T (p.Leu109=)	rs148971840	0.00006
NM_018238.4(AGK):c.410G>A (p.Arg137Gln)	rs770394329	0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=)	rs543549513	0.00006
NM_018238.4(AGK):c.976-20A>G	rs201192380	0.00006
NM_018238.4(AGK):c.297+2T>C	rs765471424	0.00005
NM_018238.4(AGK):c.621C>T (p.Thr207=)	rs140431258	0.00005
NM_018238.4(AGK):c.655G>A (p.Val219Ile)	rs201584377	0.00005
NM_018238.4(AGK):c.684G>A (p.Gly228=)	rs150732826	0.00005
NM_018238.4(AGK):c.101+7A>C	rs373899577	0.00004
NM_018238.4(AGK):c.142-11T>C	rs899737243	0.00004
NM_018238.4(AGK):c.203A>G (p.Asn68Ser)	rs565745559	0.00004
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.221+9G>A	rs200123164	0.00003
NM_018238.4(AGK):c.257C>G (p.Pro86Arg)	rs762680550	0.00003
NM_018238.4(AGK):c.589-20G>T	rs751876434	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.243A>G (p.Glu81=)	rs745864268	0.00002
NM_018238.4(AGK):c.401G>A (p.Gly134Asp)	rs568195338	0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile)	rs747244579	0.00002
NM_018238.4(AGK):c.63G>C (p.Leu21=)	rs779484397	0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter)	rs771945804	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.1197G>A (p.Leu399=)	rs139412235	0.00001
NM_018238.4(AGK):c.297+3A>G	rs972525482	0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter)	rs746709222	0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter)	rs1199705359	0.00001
NM_018238.4(AGK):c.498C>T (p.Ala166=)	rs748557845	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.880C>A (p.Leu294Ile)	rs139547145	0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro)	rs863223893	0.00001
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141255267)_(141352724_?)dup
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NC_000007.13:g.(?_141351305)_(141352724_?)del
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.101+13C>G
NM_018238.4(AGK):c.101+4_101+7dup
NM_018238.4(AGK):c.1035dup (p.Ile346fs)	rs1259937492
NM_018238.4(AGK):c.1039_1044del (p.Thr347_Ile348del)	rs758017978
NM_018238.4(AGK):c.1042A>G (p.Ile348Val)
NM_018238.4(AGK):c.1045G>C (p.Gly349Arg)
NM_018238.4(AGK):c.1046+11T>C
NM_018238.4(AGK):c.1046+13G>C
NM_018238.4(AGK):c.1046+7G>T
NM_018238.4(AGK):c.1047-12C>G
NM_018238.4(AGK):c.1047-2A>T	rs886041491
NM_018238.4(AGK):c.1047-7C>T
NM_018238.4(AGK):c.1047-8G>A
NM_018238.4(AGK):c.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1068C>T (p.Pro356=)
NM_018238.4(AGK):c.1077C>T (p.His359=)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly)	rs748320721
NM_018238.4(AGK):c.1089G>A (p.Thr363=)
NM_018238.4(AGK):c.1098C>T (p.Leu366=)	rs369042931
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1131+19G>A
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1132-13C>A
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1140G>A (p.Gly380=)
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs)	rs1554405928
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1176G>C (p.Ala392=)
NM_018238.4(AGK):c.1236G>A (p.Lys412=)
NM_018238.4(AGK):c.1260C>T (p.Pro420=)
NM_018238.4(AGK):c.1263C>A (p.Thr421=)	rs1166298575
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.141+16del
NM_018238.4(AGK):c.142-10del
NM_018238.4(AGK):c.142-14C>G
NM_018238.4(AGK):c.142-18T>G
NM_018238.4(AGK):c.142-4T>C
NM_018238.4(AGK):c.142-8T>A
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
NM_018238.4(AGK):c.174A>G (p.Ala58=)
NM_018238.4(AGK):c.190A>G (p.Thr64Ala)
NM_018238.4(AGK):c.212C>T (p.Ala71Val)
NM_018238.4(AGK):c.217A>G (p.Lys73Glu)	rs1796233762
NM_018238.4(AGK):c.221+13G>A
NM_018238.4(AGK):c.222-20A>G
NM_018238.4(AGK):c.222-3C>G
NM_018238.4(AGK):c.237A>G (p.Leu79=)
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.267T>C (p.His89=)
NM_018238.4(AGK):c.26G>C (p.Arg9Pro)
NM_018238.4(AGK):c.287C>T (p.Thr96Ile)
NM_018238.4(AGK):c.289A>G (p.Ile97Val)
NM_018238.4(AGK):c.298-18G>A
NM_018238.4(AGK):c.298-18G>C
NM_018238.4(AGK):c.298-18G>T
NM_018238.4(AGK):c.331G>A (p.Glu111Lys)
NM_018238.4(AGK):c.331G>C (p.Glu111Gln)	rs145805257
NM_018238.4(AGK):c.343A>C (p.Asn115His)
NM_018238.4(AGK):c.352G>A (p.Val118Met)
NM_018238.4(AGK):c.355A>G (p.Ile119Val)	rs180770509
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.391-13A>G	rs752545115
NM_018238.4(AGK):c.391-6T>C
NM_018238.4(AGK):c.391-9C>G
NM_018238.4(AGK):c.396T>C (p.Val132=)
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.411A>T (p.Arg137=)
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.423+19T>C
NM_018238.4(AGK):c.424-14C>T
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018238.4(AGK):c.424-3C>T
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.424-4C>T
NM_018238.4(AGK):c.424-5C>A	rs113599212
NM_018238.4(AGK):c.424-5C>G	rs113599212
NM_018238.4(AGK):c.424-5C>T	rs113599212
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.424-6C>T
NM_018238.4(AGK):c.424-8C>G
NM_018238.4(AGK):c.42A>G (p.Lys14=)
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.462G>A (p.Leu154=)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly)	rs888790526
NM_018238.4(AGK):c.492C>G (p.Leu164=)	rs1485021759
NM_018238.4(AGK):c.495T>C (p.Phe165=)
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
NM_018238.4(AGK):c.519-19A>G
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_018238.4(AGK):c.519-4_519-3del	rs770005760
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu)	rs200104400
NM_018238.4(AGK):c.573T>C (p.Asp191=)
NM_018238.4(AGK):c.579G>A (p.Leu193=)	rs745967065
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.621C>G (p.Thr207=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.632G>A (p.Trp211Ter)	rs2116998520
NM_018238.4(AGK):c.654C>A (p.Gly218=)
NM_018238.4(AGK):c.654C>T (p.Gly218=)
NM_018238.4(AGK):c.668+9T>C
NM_018238.4(AGK):c.669-16C>A
NM_018238.4(AGK):c.669-6del
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys)	rs1057521780
NM_018238.4(AGK):c.717C>T (p.Ser239=)
NM_018238.4(AGK):c.726+18T>G
NM_018238.4(AGK):c.726+9G>T
NM_018238.4(AGK):c.763A>G (p.Thr255Ala)	rs886062020
NM_018238.4(AGK):c.776A>G (p.Glu259Gly)
NM_018238.4(AGK):c.785C>T (p.Pro262Leu)
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.805C>A (p.Pro269Thr)	rs773675584
NM_018238.4(AGK):c.80A>C (p.His27Pro)
NM_018238.4(AGK):c.80A>G (p.His27Arg)
NM_018238.4(AGK):c.819T>C (p.Pro273=)
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
NM_018238.4(AGK):c.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.877+13G>A
NM_018238.4(AGK):c.877+19A>G
NM_018238.4(AGK):c.878-15A>T
NM_018238.4(AGK):c.878-17C>T
NM_018238.4(AGK):c.878-6C>T	rs2117014175
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.900G>A (p.Pro300=)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.924G>A (p.Leu308=)
NM_018238.4(AGK):c.954G>A (p.Arg318=)
NM_018238.4(AGK):c.963G>A (p.Gln321=)	rs746403177
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
NM_018238.4(AGK):c.972G>A (p.Pro324=)
NM_018238.4(AGK):c.975+16dup
NM_018238.4(AGK):c.976-9C>T	rs746375297

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