ClinVar Miner

List of variants reported as pathogenic for cataract by OMIM

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp) rs370424081 0.00010
NM_000496.3(CRYBB2):c.471C>T (p.Pro157=) rs745938679 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_012186.3(FOXE3):c.307G>A (p.Glu103Lys) rs1057518738 0.00003
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_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 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_005208.5(CRYBA1):c.215+1G>A rs1264025914 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_024513.4(FYCO1):c.3150+1G>T rs766522434 0.00001
NCBI36/hg18 Xp22.13(chrX:17104696-17800261)x3
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_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
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_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_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.56C>A (p.Ala19Asp) rs121909049
NM_001491.2(GCNT2):c.-117_*41del
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.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.694GAA[1] (p.Glu233del) rs121908938
NM_004076.4(CRYBB3):c.[493G>C];[493G>C] rs74315490
NM_004076.5(CRYBB3):c.581T>A (p.Val194Glu) rs587777601
NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile) rs137853200
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_005029.4(PITX3):c.38G>A (p.Ser13Asn) rs104894175
NM_005208.5(CRYBA1):c.269GAG[1] (p.Gly91del) rs1064797219
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005210.4(CRYGB):c.72del (p.Asn25fs) rs387907342
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
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.262C>T (p.Pro88Ser) rs80358200
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) rs80358203
NM_005360.5(MAF):c.863G>C (p.Arg288Pro) rs121917735
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.908A>C (p.Gln303Pro) rs786205222
NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly) rs398123066
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.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.638del (p.Gly213fs) rs398122378
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_014290.3(TDRD7):c.1129del (p.Ala377fs) rs765628635
NM_014290.3(TDRD7):c.1849GTT[1] (p.Val618del) rs750207077
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>T (p.Gly18Val) rs104893736
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_020989.4(CRYGC):c.119_123dup (p.Cys42fs) rs1695062782
NM_020989.4(CRYGC):c.385G>T (p.Gly129Cys) rs137853924
NM_020989.4(CRYGC):c.470G>A (p.Trp157Ter) rs398122392
NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter) rs398122944
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) rs1593332981
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.616T>A (p.Phe206Ile) rs397514704
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.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) rs387906965
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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