ClinVar Miner

List of variants in gene GJA3 studied for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 195
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HGVS dbSNP gnomAD frequency
NM_021954.4(GJA3):c.*2426C>A rs6490521 0.98063
NM_021954.4(GJA3):c.*618G>A rs9509051 0.98010
NM_021954.4(GJA3):c.895C>A (p.Leu299Met) rs968566 0.96584
NM_021954.4(GJA3):c.*2593A>T rs6490520 0.95210
NM_021954.4(GJA3):c.*319G>T rs1886176 0.24473
NM_021954.4(GJA3):c.*2602T>C rs6490519 0.24235
NM_021954.4(GJA3):c.*1257G>A rs12427963 0.21768
NM_021954.4(GJA3):c.*2231A>G rs59606061 0.18912
NM_021954.4(GJA3):c.*2469T>C rs60759737 0.18797
NM_021954.4(GJA3):c.*243G>A rs4769953 0.18639
NM_021954.4(GJA3):c.543C>T (p.Cys181=) rs74607195 0.03391
NM_021954.4(GJA3):c.*581A>G rs61950897 0.02766
NM_021954.4(GJA3):c.*3166C>T rs74035923 0.02351
NM_021954.4(GJA3):c.*509A>G rs141040647 0.01615
NM_021954.4(GJA3):c.*1083T>C rs144491437 0.01612
NM_021954.4(GJA3):c.*2864T>C rs140291136 0.01090
NM_021954.4(GJA3):c.*1997G>A rs58325462 0.00903
NM_021954.4(GJA3):c.375A>G (p.Pro125=) rs111863858 0.00642
NM_021954.4(GJA3):c.*2416A>G rs138134157 0.00529
NM_021954.4(GJA3):c.*358T>C rs186827757 0.00509
NM_021954.4(GJA3):c.*904G>T rs148572505 0.00384
NM_021954.4(GJA3):c.1086C>A (p.Leu362=) rs368180843 0.00339
NM_021954.4(GJA3):c.*223T>G rs78201355 0.00330
NM_021954.4(GJA3):c.398G>A (p.Arg133Gln) rs149933083 0.00301
NM_021954.4(GJA3):c.*1351C>T rs138516703 0.00295
NM_021954.4(GJA3):c.231C>T (p.Phe77=) rs143508620 0.00277
NM_021954.4(GJA3):c.1111G>A (p.Ala371Thr) rs141882615 0.00217
NM_021954.4(GJA3):c.*2870C>T rs575352846 0.00160
NM_021954.4(GJA3):c.-60G>A rs533095023 0.00143
NM_021954.4(GJA3):c.*47A>G rs75630774 0.00133
NM_021954.4(GJA3):c.1234G>A (p.Gly412Arg) rs201955819 0.00132
NM_021954.4(GJA3):c.*1957G>C rs142629563 0.00071
NM_021954.4(GJA3):c.*2831A>G rs529957247 0.00049
NM_021954.4(GJA3):c.*491T>A rs563280044 0.00046
NM_021954.4(GJA3):c.*2093A>C rs1040384781 0.00031
NM_021954.4(GJA3):c.1060C>G (p.Pro354Ala) rs770718484 0.00031
NM_021954.4(GJA3):c.261G>A (p.Thr87=) rs368890350 0.00031
NM_021954.4(GJA3):c.*1449C>T rs867076363 0.00029
NM_021954.4(GJA3):c.1083A>C (p.Pro361=) rs779251021 0.00029
NM_021954.4(GJA3):c.395C>T (p.Ser132Leu) rs145026721 0.00027
NM_021954.4(GJA3):c.*2311A>C rs555846962 0.00017
NM_021954.4(GJA3):c.-41G>T rs886050024 0.00016
NM_021954.4(GJA3):c.852C>G (p.Ala284=) rs557677250 0.00016
NM_021954.4(GJA3):c.*1176A>C rs886050014 0.00014
NM_021954.4(GJA3):c.*2931A>G rs544693111 0.00014
NM_021954.4(GJA3):c.771C>A (p.Pro257=) rs553789027 0.00013
NM_021954.4(GJA3):c.*2107T>A rs553286295 0.00011
NM_021954.4(GJA3):c.*3509C>G rs966696205 0.00011
NM_021954.4(GJA3):c.672C>T (p.His224=) rs757939318 0.00009
NM_021954.4(GJA3):c.*2695C>T rs774238106 0.00008
NM_021954.4(GJA3):c.1233C>T (p.Leu411=) rs543711227 0.00007
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu) rs766975987 0.00006
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu) rs774444626 0.00006
NM_021954.4(GJA3):c.*1931G>C rs1244045985 0.00005
NM_021954.4(GJA3):c.*532A>G rs1169670475 0.00005
NM_021954.4(GJA3):c.*101G>A rs886050019 0.00004
NM_021954.4(GJA3):c.*1365G>A rs1032039343 0.00004
NM_021954.4(GJA3):c.*1841C>T rs886050011 0.00004
NM_021954.4(GJA3):c.*1232T>C rs886050013 0.00003
NM_021954.4(GJA3):c.*3108C>T rs886050006 0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln) rs747097789 0.00003
NM_021954.4(GJA3):c.*1535C>T rs1190517873 0.00002
NM_021954.4(GJA3):c.*2079A>G rs886050010 0.00002
NM_021954.4(GJA3):c.*3609G>A rs767584645 0.00002
NM_021954.4(GJA3):c.522G>A (p.Glu174=) rs772086761 0.00002
NM_021954.4(GJA3):c.*2340A>G rs1008861631 0.00001
NM_021954.4(GJA3):c.*3210A>G rs779184721 0.00001
NM_021954.4(GJA3):c.*647G>A rs549434985 0.00001
NM_021954.4(GJA3):c.*691G>A rs560674293 0.00001
NM_021954.4(GJA3):c.-98G>A rs935261635 0.00001
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu) rs886050020 0.00001
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp) rs1958811300 0.00001
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg) rs1477019809 0.00001
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln) rs753251437 0.00001
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly) rs886050023 0.00001
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) rs140332366 0.00001
NM_021954.4(GJA3):c.655A>G (p.Met219Val) rs746511873 0.00001
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NC_000013.10:g.(?_20716100)_(20717447_?)dup
NM_021954.4(GJA3):c.*1239C>G rs575890873
NM_021954.4(GJA3):c.*1495G>C rs1324857690
NM_021954.4(GJA3):c.*1760G>A rs183550581
NM_021954.4(GJA3):c.*1941C>G rs960605395
NM_021954.4(GJA3):c.*1965C>T rs1958798103
NM_021954.4(GJA3):c.*198T>C rs886050018
NM_021954.4(GJA3):c.*201G>C rs1025195589
NM_021954.4(GJA3):c.*2086G>T rs1958797398
NM_021954.4(GJA3):c.*2363A>G rs1958795891
NM_021954.4(GJA3):c.*2829A>T rs886050009
NM_021954.4(GJA3):c.*2923A>G rs886050008
NM_021954.4(GJA3):c.*3099C>A rs886050007
NM_021954.4(GJA3):c.*3182T>G rs886050005
NM_021954.4(GJA3):c.*3389G>A rs886050004
NM_021954.4(GJA3):c.*740G>C rs141947045
NM_021954.4(GJA3):c.*744A>G rs755473152
NM_021954.4(GJA3):c.*846G>A rs886050015
NM_021954.4(GJA3):c.*846G>C rs886050015
NM_021954.4(GJA3):c.1017G>A (p.Ala339=) rs11617415
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
NM_021954.4(GJA3):c.1065C>G (p.Val355=) rs989998887
NM_021954.4(GJA3):c.1089G>A (p.Ala363=) rs1958811917
NM_021954.4(GJA3):c.1101_1108del (p.Glu367fs)
NM_021954.4(GJA3):c.1107C>T (p.Gly369=)
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) rs1593332981
NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs)
NM_021954.4(GJA3):c.1152dup (p.Ser385fs)
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn) rs1958811054
NM_021954.4(GJA3):c.1189dup (p.Ala397fs)
NM_021954.4(GJA3):c.1197dup (p.Thr400fs)
NM_021954.4(GJA3):c.1203G>A (p.Ala401=)
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg) rs1593332899
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala) rs1047204525
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg) rs1958809965
NM_021954.4(GJA3):c.130G>A (p.Val44Met) rs981126461
NM_021954.4(GJA3):c.134G>C (p.Trp45Ser)
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
NM_021954.4(GJA3):c.139G>A (p.Asp47Asn)
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr) rs1566515377
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)
NM_021954.4(GJA3):c.143A>G (p.Glu48Gly)
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) rs2141138396
NM_021954.4(GJA3):c.151G>C (p.Asp51His) rs2141138391
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)
NM_021954.4(GJA3):c.175C>G (p.Pro59Ala)
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.178G>A (p.Gly60Ser) rs2141138370
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) rs121917823
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)
NM_021954.4(GJA3):c.196T>C (p.Tyr66His)
NM_021954.4(GJA3):c.199G>C (p.Asp67His)
NM_021954.4(GJA3):c.19C>G (p.Leu7Val) rs1555339543
NM_021954.4(GJA3):c.1A>G (p.Met1Val)
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu) rs1958822283
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)
NM_021954.4(GJA3):c.226C>T (p.Arg76Cys) rs1566515310
NM_021954.4(GJA3):c.227G>A (p.Arg76His) rs121917827
NM_021954.4(GJA3):c.246C>G (p.Ile82Met) rs781267768
NM_021954.4(GJA3):c.260C>T (p.Thr87Met) rs864309687
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
NM_021954.4(GJA3):c.32T>C (p.Leu11Ser)
NM_021954.4(GJA3):c.383A>T (p.Asp128Val) rs1440873571
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) rs398122937
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp) rs755792418
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys) rs1958823641
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) rs1555339477
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg) rs2141138491
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln) rs1114167308
NM_021954.4(GJA3):c.519C>T (p.Phe173=)
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) rs2141138001
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) rs121917825
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) rs140332366
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) rs140332366
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)
NM_021954.4(GJA3):c.584C>T (p.Ser195Phe)
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) rs2141137977
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) rs397514703
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) rs397514704
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)
NM_021954.4(GJA3):c.64G>A (p.Gly22Ser)
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)
NM_021954.4(GJA3):c.720G>A (p.Pro240=) rs746223535
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu) rs771424292
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)
NM_021954.4(GJA3):c.771dup (p.Ser258fs)
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln) rs1958816239
NM_021954.4(GJA3):c.78G>A (p.Leu26=) rs1172500719
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_021954.4(GJA3):c.82G>T (p.Val28Leu)
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser) rs886050022
NM_021954.4(GJA3):c.868del (p.Ala290fs)
NM_021954.4(GJA3):c.885G>C (p.Ala295=) rs886050021
NM_021954.4(GJA3):c.902C>T (p.Ala301Val) rs1460869929
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg) rs377190812
NM_021954.4(GJA3):c.950dup (p.His318fs)
NM_021954.4(GJA3):c.96C>A (p.Phe32Leu)
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu) rs374701362

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