List of variants in gene AGK reported as uncertain significance for cataract

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_018238.4(AGK):c.*1024C>T	rs78124534	0.00609
NM_018238.4(AGK):c.*933C>T	rs73171606	0.00289
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.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.*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.410G>A (p.Arg137Gln)	rs770394329	0.00006
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.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.257C>G (p.Pro86Arg)	rs762680550	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.401G>A (p.Gly134Asp)	rs568195338	0.00002
NM_018238.4(AGK):c.562G>A (p.Val188Ile)	rs747244579	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.*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.880C>A (p.Leu294Ile)	rs139547145	0.00001
NM_018238.4(AGK):c.881T>C (p.Leu294Pro)	rs863223893	0.00001
NC_000007.13:g.(?_141255267)_(141352724_?)dup
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.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.1048A>C (p.Ser350Arg)
NM_018238.4(AGK):c.1078G>A (p.Val360Met)
NM_018238.4(AGK):c.1079T>G (p.Val360Gly)	rs748320721
NM_018238.4(AGK):c.1098C>T (p.Leu366=)	rs369042931
NM_018238.4(AGK):c.1127C>T (p.Pro376Leu)
NM_018238.4(AGK):c.1132-10_1132-9del
NM_018238.4(AGK):c.1133G>A (p.Gly378Glu)
NM_018238.4(AGK):c.1154T>C (p.Ile385Thr)
NM_018238.4(AGK):c.1175C>T (p.Ala392Val)
NM_018238.4(AGK):c.1269A>G (p.Ter423Trp)
NM_018238.4(AGK):c.145T>G (p.Phe49Val)
NM_018238.4(AGK):c.173C>T (p.Ala58Val)
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.222-3C>G
NM_018238.4(AGK):c.241G>A (p.Glu81Lys)
NM_018238.4(AGK):c.257C>T (p.Pro86Leu)
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.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.391-9C>G
NM_018238.4(AGK):c.420T>G (p.Asp140Glu)
NM_018238.4(AGK):c.424-3C>A
NM_018238.4(AGK):c.424-3C>T
NM_018238.4(AGK):c.424-6C>G
NM_018238.4(AGK):c.42A>G (p.Lys14=)
NM_018238.4(AGK):c.446T>C (p.Ile149Thr)
NM_018238.4(AGK):c.472A>G (p.Ser158Gly)	rs888790526
NM_018238.4(AGK):c.499G>A (p.Glu167Lys)
NM_018238.4(AGK):c.542C>A (p.Ala181Asp)
NM_018238.4(AGK):c.544A>C (p.Ile182Leu)	rs200104400
NM_018238.4(AGK):c.590G>A (p.Gly197Asp)
NM_018238.4(AGK):c.615A>G (p.Ala205=)
NM_018238.4(AGK):c.622G>A (p.Gly208Ser)
NM_018238.4(AGK):c.670T>C (p.Tyr224His)
NM_018238.4(AGK):c.671A>G (p.Tyr224Cys)	rs1057521780
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.874G>A (p.Asp292Asn)
NM_018238.4(AGK):c.899C>T (p.Pro300Leu)
NM_018238.4(AGK):c.901G>A (p.Glu301Lys)
NM_018238.4(AGK):c.963G>A (p.Gln321=)	rs746403177
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
NM_018238.4(AGK):c.976-9C>T	rs746375297

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