ClinVar Miner

List of variants reported as pathogenic for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter) rs185805779 0.00023
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323 0.00019
NM_001491.3(GCNT2):c.60del (p.Ile20fs) rs1184095219 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp) rs370424081 0.00010
NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) rs148284531 0.00009
NM_000496.3(CRYBB2):c.471C>T (p.Pro157=) rs745938679 0.00005
NM_018238.4(AGK):c.297+2T>C rs765471424 0.00005
NM_145649.5(GCNT2):c.1049G>A (p.Gly350Glu) rs56141211 0.00005
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys) rs397515623 0.00003
NM_002340.6(LSS):c.1025T>G (p.Ile342Ser) rs749141857 0.00003
NM_003380.5(VIM):c.451G>A (p.Glu151Lys) rs121917775 0.00003
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys) rs1057518738 0.00003
NM_006005.3(WFS1):c.1956C>G (p.Tyr652Ter) rs772357412 0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter) rs1443751733 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) rs387906964 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys) rs74315441 0.00001
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NM_001161748.2(LIM2):c.313T>G (p.Phe105Val) rs121913555 0.00001
NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter) rs1246080692 0.00001
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001491.3(GCNT2):c.710_711insT (p.Lys237fs) rs949335475 0.00001
NM_002340.6(LSS):c.1762G>A (p.Gly588Ser) rs561449819 0.00001
NM_002340.6(LSS):c.1887G>T (p.Trp629Cys) rs764098604 0.00001
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp) rs104893685 0.00001
NM_004076.5(CRYBB3):c.466G>A (p.Gly156Arg) rs1203386884 0.00001
NM_005208.5(CRYBA1):c.215+1G>A rs1264025914 0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu) rs28937892 0.00001
NM_006005.3(WFS1):c.76C>T (p.Arg26Ter) rs747658523 0.00001
NM_015073.3(SIPA1L3):c.4489C>T (p.Arg1497Ter) rs756898971 0.00001
NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter) rs1564745688 0.00001
NM_018216.4(PANK4):c.607-53G>A rs575200084 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_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) rs768945306 0.00001
NM_024513.4(FYCO1):c.3150+1G>T rs766522434 0.00001
46;XY;inv(9)(q22.3q34.11)dn
NC_000001.10:g.(?_146714354)_(147381384_?)del
NC_000001.10:g.(?_147380063)_(147381404_?)del
NC_000001.10:g.(?_16451710)_(16532835_?)del
NC_000005.10:g.139189727_139201554del
NC_000006.11:g.(?_10556657)_(10626840_?)del
NC_000006.12:g.(?_10528892)_(10557362_?)del
NC_000006.12:g.(?_10556404)_(10626627_?)del
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000016.10:g.(?_78278583)_(80589366_?)del
NC_000016.10:g.(?_79594440)_(79599922_?)del
NC_000016.9:g.(?_65821800)_(67208957_?)del
NHS, 500-KB TRIPLICATION
NM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)
NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg) rs398122947
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys) rs74315439
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) rs121912973
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625
NM_000496.3(CRYBB2):c.355G>A (p.Gly119Arg) rs864309698
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_000496.3(CRYBB2):c.470C>T (p.Pro157Leu)
NM_000496.3(CRYBB2):c.563G>A (p.Arg188His) rs886041410
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys) rs1568480054
NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu) rs869312732
NM_001195.5(BFSP1):c.1042+3A>G rs1085307127
NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn) rs1085307126
NM_001195.5(BFSP1):c.736-1384_957-66del
NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)
NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn) rs387907336
NM_001289808.2(CRYAB):c.450del (p.Lys150fs) rs1566402656
NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser) rs387907337
NM_001291867.2(NHS):c.566-154020_566-149209del
NM_001291867.2(NHS):c.853-2A>C
NM_001366145.2(TRPM3):c.195A>G (p.Ile65Met)
NM_001374675.1(HSF4):c.256A>G (p.Ile86Val) rs121909050
NM_001374675.1(HSF4):c.341T>C (p.Leu114Pro) rs121909048
NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys) rs28937573
NM_001374675.1(HSF4):c.392G>A (p.Trp131Ter) rs2145920428
NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)
NM_001374675.1(HSF4):c.56C>A (p.Ala19Asp) rs121909049
NM_001374675.1(HSF4):c.627-2A>G
NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)
NM_001374675.1(HSF4):c.89del (p.Asp30fs) rs1555549755
NM_001374675.1(HSF4):c.965dup (p.Pro323fs) rs776129797
NM_001491.2(GCNT2):c.-117_*41del
NM_001491.3(GCNT2):c.760del (p.His254fs)
NM_001886.3(CRYBA4):c.190G>T (p.Gly64Trp) rs1114167427
NM_001886.3(CRYBA4):c.206T>C (p.Leu69Pro) rs74315487
NM_001886.3(CRYBA4):c.281T>C (p.Phe94Ser) rs74315486
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_001887.4(CRYBB1):c.387C>A (p.Ser129Arg) rs1114167433
NM_001887.4(CRYBB1):c.585del (p.Tyr196fs) rs1569203234
NM_001887.4(CRYBB1):c.658G>T (p.Gly220Ter) rs74315488
NM_001887.4(CRYBB1):c.757T>C (p.Ter253Arg) rs1114167432
NM_002340.6(LSS):c.1741T>C (p.Trp581Arg) rs864622780
NM_003380.5(VIM):c.15del (p.Val6fs) rs864309690
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003571.4(BFSP2):c.166del (p.Val56fs) rs1576552712
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)
NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del) rs121908938
NM_004076.4(CRYBB3):c.[493G>C];[493G>C] rs74315490
NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu)
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) rs587777601
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)
NM_004431.5(EPHA2):c.2815_2825+9del rs2124192639
NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile) rs137853200
NM_004431.5(EPHA2):c.2825+2del
NM_004431.5(EPHA2):c.2826-9G>A rs886041412
NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp) rs137853199
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs) rs2024441691
NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter) rs2124283411
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter) rs1569602837
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)
NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) rs104894175
NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) rs1411557416
NM_005208.5(CRYBA1):c.215+1G>C rs1264025914
NM_005208.5(CRYBA1):c.215+1G>T rs1264025914
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005208.5(CRYBA1):c.607_608del (p.Gln203fs) rs1567671947
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005210.4(CRYGB):c.72del (p.Asn25fs) rs387907342
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys) rs983216627
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.139G>A (p.Asp47Asn) rs121434643
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) rs80358201
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly) rs2149015418
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) rs1307969607
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) rs1651879427
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
NM_005267.5(GJA8):c.196T>C (p.Tyr66His) rs1571175950
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) rs1651881222
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) rs80358200
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) rs80358200
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) rs1651918704
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) rs1651919374
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) rs80358203
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) rs45619342
NM_005267.5(GJA8):c.94T>G (p.Phe32Val)
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.863G>C (p.Arg288Pro) rs121917735
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005360.5(MAF):c.890A>G (p.Lys297Arg) rs121917736
NM_005360.5(MAF):c.895C>A (p.Arg299Ser) rs786205221
NM_005360.5(MAF):c.895C>T (p.Arg299Cys) rs786205221
NM_005360.5(MAF):c.908A>C (p.Gln303Pro) rs786205222
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1234_1237del (p.Val412fs) rs763677869
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) rs398123066
NM_006005.3(WFS1):c.1525_1539del (p.Val509_Tyr513del) rs781262017
NM_006005.3(WFS1):c.1558C>T (p.Gln520Ter) rs377544135
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) rs1730930342
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs) rs797045076
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158
NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) rs121909597
NM_006891.4(CRYGD):c.176G>A (p.Arg59His) rs121909596
NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) rs398122948
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) rs1337897299
NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) rs121909595
NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) rs121909598
NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) rs28931605
NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) rs28931605
NM_012064.4(MIP):c.401A>G (p.Glu134Gly) rs121917869
NM_012064.4(MIP):c.413C>G (p.Thr138Arg) rs121917867
NM_012064.4(MIP):c.508dup (p.Leu170fs) rs1057519616
NM_012064.4(MIP):c.606+1G>C rs1220143491
NM_012064.4(MIP):c.606+1G>T
NM_012064.4(MIP):c.616_632del (p.Val206fs)
NM_012064.4(MIP):c.623del (p.Pro208fs) rs1555179713
NM_012064.4(MIP):c.638del (p.Gly213fs) rs398122378
NM_012064.4(MIP):c.97C>T (p.Arg33Cys) rs864309693
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg) rs2124045186
NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser) rs387906793
NM_014290.3(TDRD7):c.1129del (p.Ala377fs) rs765628635
NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del) rs750207077
NM_014290.3(TDRD7):c.2008C>T (p.Gln670Ter) rs2131165749
NM_014290.3(TDRD7):c.2660del (p.Lys887fs)
NM_014290.3(TDRD7):c.328dup (p.Thr110fs) rs1554743428
NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter) rs1554744860
NM_015073.3(SIPA1L3):c.3492dup (p.Gly1165fs) rs1568573490
NM_015221.4(DNMBP):c.2852_2855del (p.Thr951fs) rs1564723150
NM_015221.4(DNMBP):c.2947_2948del (p.Glu982_Asp983insTer) rs1564722302
NM_017541.4(CRYGS):c.116C>G (p.Ser39Cys) rs1184398243
NM_017541.4(CRYGS):c.124G>A (p.Val42Met) rs1578956689
NM_017541.4(CRYGS):c.53G>A (p.Gly18Asp)
NM_017541.4(CRYGS):c.53G>T (p.Gly18Val) rs104893736
NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu) rs587783070
NM_018238.4(AGK):c.1035dup (p.Ile346fs) rs1259937492
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) rs1554405928
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.632G>A (p.Trp211Ter) rs2116998520
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) rs1695062782
NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro) rs104893618
NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) rs137853924
NM_020989.4(CRYGC):c.394del (p.Val132fs) rs2105857937
NM_020989.4(CRYGC):c.423del (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.423dup (p.Arg142fs) rs1553585262
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) rs398122392
NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) rs398122944
NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe) rs587778872
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) rs1593332981
NM_021954.4(GJA3):c.130G>A (p.Val44Met) rs981126461
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) rs121917823
NM_021954.4(GJA3):c.227G>A (p.Arg76His) rs121917827
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) rs398122937
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.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.7G>T (p.Asp3Tyr)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) rs387906963
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) rs387906966
NM_024513.4(FYCO1):c.2345del (p.Gln782fs)
NM_024513.4(FYCO1):c.2505del (p.Ala836fs) rs1575369255
NM_024513.4(FYCO1):c.265_267delinsTGA (p.Arg89Ter)
NM_024513.4(FYCO1):c.3161del (p.Ala1054fs) rs2125846016
NM_024513.4(FYCO1):c.3322A>T (p.Lys1108Ter) rs73830668
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) rs747093432
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.3861del (p.Glu1287fs) rs777269054
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) rs387906965
NM_024513.4(FYCO1):c.524G>A (p.Trp175Ter) rs2125859216
NM_024513.4(FYCO1):c.528_529insGGCAAAGT (p.Thr177fs) rs2125859204
NM_024513.4(FYCO1):c.575G>A (p.Trp192Ter) rs200679450
NM_145649.5(GCNT2):c.1000A>T (p.Arg334Ter) rs2127444957
NM_176812.5(CHMP4B):c.386A>T (p.Asp129Val) rs118203965
NM_176812.5(CHMP4B):c.481G>A (p.Glu161Lys) rs118203966
NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg) rs878852983

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