ClinVar Miner

List of variants studied for cataract 38 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP gnomAD frequency
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.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.743A>C (p.His248Pro) rs150160397 0.00051
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+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.727-9C>T rs199977261 0.00017
NM_018238.4(AGK):c.764C>T (p.Thr255Met) rs112625649 0.00015
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.1052G>A (p.Arg351Gln) rs374861637 0.00010
NM_018238.4(AGK):c.445A>G (p.Ile149Val) rs113986866 0.00009
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.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.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.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.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
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.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.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.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>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.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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