ClinVar Miner

List of variants reported as pathogenic for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP
IKBKG, 10-BP INS, NT127
IKBKG, EX4-10DEL
LARGE1, 63-KB DEL
LARGE1, GLN87FS
NC_000001.11:g.(?_235465599)_(235465734_?)del
NC_000003.12:g.(?_49121216)_(49533209_?)del
NC_000003.12:g.(?_49530787)_(49533209_?)del
NC_000007.13:g.(?_16341026)_(16348272_?)del
NC_000007.14:g.(?_16091675)_(16216217_?)del
NC_000007.14:g.(?_16216046)_(16376261_?)del
NC_000007.14:g.(?_16301411)_(16308637_?)del
NC_000007.14:g.(?_16308513)_(16376251_?)del
NC_000007.14:g.(?_16308523)_(16689906_?)del
NC_000007.14:g.(?_16406061)_(16406337_?)del
NC_000008.11:g.(?_43103539)_(43103840_?)del
NC_000009.12:g.(?_105546358)_(105620061_?)del
NC_000009.12:g.(?_105575023)_(105575147_?)del
NC_000009.12:g.(?_105606576)_(105641128_?)del
NC_000010.11:g.68247363_68253885del
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NC_000019.10:g.(?_46755431)_(46756958_?)del
NDP, 1-BP DEL
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.4(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.4(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.4(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620
NM_001077365.2(POMT1):c.1175+4_1175+7del
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs) rs1564364615
NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter) rs1554780670
NM_001077365.2(POMT1):c.1671del (p.Ile557fs)
NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) rs794727208
NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs)
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.280+1G>T
NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.605+1G>C rs766648827
NM_001077365.2(POMT1):c.606del (p.Ile203fs)
NM_001077365.2(POMT1):c.699+62del rs1356791510
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981
NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)
NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter) rs765230689
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs)
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_001079802.2(FKTN):c.329_330del (p.Phe110fs)
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991
NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.658C>T (p.Gln220Ter)
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
NM_001079802.2(FKTN):c.868A>T (p.Lys290Ter)
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992
NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del
NM_001101426.3(CRPPA):c.535-?_933+?del
NM_001101426.4(CRPPA):c.1120-1G>T rs397515396
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter) rs397514548
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398
NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro) rs387907162
NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn) rs397514547
NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs) rs886041302
NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg) rs397515408
NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp) rs387907160
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)
NM_001101426.4(CRPPA):c.789+2T>G rs397515397
NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter) rs368593151
NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter) rs387907161
NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs) rs1554305719
NM_001165928.3(DAG1):c.285+1G>A
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_001243766.1(POMGNT1):c.1539+1G>A rs138642840
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) rs386834015
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) rs121908666
NM_002335.4(LRP5):c.1468del (p.Asp490fs) rs1554967141
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1584+1G>A rs1554967176
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) rs397514663
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) rs121908662
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) rs121908667
NM_002335.4(LRP5):c.2305del (p.Asp769fs) rs1554971145
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) rs121908663
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) rs121908660
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) rs80358319
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) rs80358305
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) rs149645175
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) rs397514665
NM_003639.4(IKBKG):c.1110dup (p.Ala371fs) rs1569556615
NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) rs137853321
NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) rs137853323
NM_004393.6(DAG1):c.2006G>T (p.Cys669Phe) rs797045023
NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)
NM_004393.6(DAG1):c.440del (p.Gln147fs) rs1553652503
NM_004393.6(DAG1):c.743del (p.Ala248fs) rs869320680
NM_004737.6(LARGE1):c.1483T>C (p.Trp495Arg) rs267607209
NM_004737.6(LARGE1):c.283C>T (p.Arg95Ter) rs761071115
NM_004737.6(LARGE1):c.992C>T (p.Ser331Phe) rs267607210
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006876.2(B4GAT1):[c.1168A>G;c.1217C>T]
NM_006876.3(B4GAT1):c.821_822insTT (p.Glu274fs) rs730882237
NM_012193.4(FZD4):c.1278_1281GACA[1] (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243
NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) rs267606970
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) rs190285831
NM_013382.5(POMT2):c.1261del (p.Arg421fs) rs587777815
NM_013382.5(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) rs119463989
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.673del (p.Trp225fs)
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206
NM_014254.3(RXYLT1):c.1016A>G (p.Tyr339Cys) rs150736997
NM_014254.3(RXYLT1):c.1018C>T (p.Arg340Ter) rs397514695
NM_014254.3(RXYLT1):c.1019_1020delinsTT (p.Arg340Leu) rs397514544
NM_014254.3(RXYLT1):c.1064_1091del (p.Asp355fs) rs397514545
NM_014254.3(RXYLT1):c.139del (p.Ala47fs) rs397514696
NM_014254.3(RXYLT1):c.279del (p.Gly94fs) rs397514546
NM_014254.3(RXYLT1):c.649del (p.Arg217fs) rs948674144
NM_014254.3(RXYLT1):c.795del (p.Arg266fs) rs397514543
NM_017739.3(POMGNT1):c.1413+1G>C rs587777821
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247
NM_022167.4(XYLT2):c.520del (p.Ala174fs) rs797044807
NM_022167.4(XYLT2):c.692dup (p.Val232fs) rs797044806
NM_024301.5(FKRP):c.-39-2934_564del
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) rs1568419860
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) rs1060502109
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) rs754403441
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) rs28937903
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.5(FKRP):c.142del (p.Arg48fs) rs1555738103
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) rs104894682
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) rs1290836394
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) rs886042506
NM_024301.5(FKRP):c.1A>G (p.Met1Val) rs587777223
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) rs770711331
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) rs104894691
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) rs104894692
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) rs765885747
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) rs398124395
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) rs752582904
NM_024301.5(FKRP):c.948del (p.Cys317fs)
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) rs104894684
NM_024928.5(STN1):c.404G>C (p.Arg135Thr) rs1057519583
NM_024928.5(STN1):c.469G>T (p.Asp157Tyr) rs765462548
NM_025099.6(CTC1):c.1058del (p.Ser353fs) rs199473675
NM_025099.6(CTC1):c.1213del (p.Asp405fs) rs1444923772
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly) rs199473676
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859
NM_025099.6(CTC1):c.2611G>A (p.Val871Met) rs369255297
NM_025099.6(CTC1):c.2831del (p.Pro944fs) rs199473677
NM_025099.6(CTC1):c.2951_2953GTT[1] (p.Cys985del) rs199473679
NM_025099.6(CTC1):c.2959C>T (p.Arg987Trp) rs202138550
NM_025099.6(CTC1):c.3425T>A (p.Leu1142His) rs201455840
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.680C>T (p.Ala227Val) rs199473673
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080
NM_025099.6(CTC1):c.859C>T (p.Arg287Ter) rs397514660
NM_032237.5(POMK):c.10C>T (p.Gln4Ter)
NM_032237.5(POMK):c.238_239del (p.Glu80fs) rs1454006905
NM_032237.5(POMK):c.288del (p.Leu97fs) rs606231306
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423
NM_032237.5(POMK):c.410T>G (p.Leu137Arg) rs397509385
NM_032237.5(POMK):c.773A>G (p.Gln258Arg) rs397509386
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983
NM_032806.6(POMGNT2):c.1000_1003del (p.Leu334fs)
NM_032806.6(POMGNT2):c.1333C>T (p.Arg445Ter) rs387907299
NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) rs387907300
NM_032806.6(POMGNT2):c.590G>A (p.Trp197Ter)
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter) rs1553618354
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455
NM_145178.4(ATOH7):c.136A>C (p.Asn46His) rs587777666
NM_145178.4(ATOH7):c.146A>T (p.Glu49Val) rs587777664
NM_145178.4(ATOH7):c.53del (p.Pro18fs) rs587777665
NM_152490.5(B3GALNT2):c.1223del (p.Pro408fs) rs1553342786
NM_152490.5(B3GALNT2):c.1423C>T (p.Gln475Ter) rs367543077
NM_152490.5(B3GALNT2):c.199C>T (p.Arg67Ter)
NM_152490.5(B3GALNT2):c.306_307TG[1] (p.Val103fs) rs367543070
NM_152490.5(B3GALNT2):c.448C>T (p.Arg150Ter) rs1282726649
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs) rs367543069
NM_152490.5(B3GALNT2):c.699del (p.Val234fs)
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072
NM_152490.5(B3GALNT2):c.755T>G (p.Val252Gly) rs367543073
NM_152490.5(B3GALNT2):c.763-1G>A rs780433836
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074
NM_152490.5(B3GALNT2):c.824_825dup (p.Ile276fs) rs367543075
NM_152490.5(B3GALNT2):c.875G>C (p.Arg292Pro) rs367543076
POMT2, IVS12AS, G-A, -14

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