ClinVar Miner

List of variants studied for perceptual disorders by ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402 0.09880
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_000180.4(GUCY2D):c.3044-7G>T rs56348143 0.02884
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_000180.4(GUCY2D):c.1724C>T (p.Pro575Leu) rs28743021 0.01496
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) rs112372281 0.00461
NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) rs55916957 0.00340
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164 0.00199
NM_000180.4(GUCY2D):c.2917G>T (p.Val973Leu) rs181567056 0.00191
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
NM_000329.3(RPE65):c.1244-5C>T rs202185816 0.00074
NM_000329.3(RPE65):c.496-4G>A rs138146176 0.00069
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser) rs146820642 0.00053
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000329.3(RPE65):c.644-42del rs61752893 0.00039
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00019
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583 0.00014
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666 0.00011
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873 0.00011
NM_000329.3(RPE65):c.859-11C>T rs369772824 0.00010
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr) rs751340355 0.00005
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00005
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) rs61749668 0.00004
NM_000329.3(RPE65):c.1129-5C>T rs368533067 0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) rs61751277 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 0.00004
NM_000180.4(GUCY2D):c.1721G>A (p.Arg574His) rs560270873 0.00003
NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) rs1200134985 0.00003
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) rs886042220 0.00003
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000180.4(GUCY2D):c.3271C>T (p.Arg1091Ter) rs769818541 0.00002
NM_000180.4(GUCY2D):c.937C>T (p.Arg313Cys) rs61749674 0.00002
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584 0.00002
NM_000329.3(RPE65):c.353+7G>A rs773557127 0.00002
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2384G>A (p.Arg795Gln) rs61750171 0.00001
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys) rs1001538483 0.00001
NM_000180.4(GUCY2D):c.3224+1G>C rs757823463 0.00001
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) rs1064795255 0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.126C>T (p.Leu42=) rs148973921 0.00001
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) rs1395763356 0.00001
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) rs61752869 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) rs61752883 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904 0.00001
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) rs1171545533 0.00001
NM_000329.3(RPE65):c.938A>G (p.His313Arg) rs1375943362 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NC_000001.11:g.68429777_68449906del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) rs1598146173
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) rs61749679
NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.1956+1G>A
NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs) rs281865410
NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) rs756044745
NM_000180.4(GUCY2D):c.2633_2636del (p.Gln878fs)
NM_000180.4(GUCY2D):c.2765A>G (p.Tyr922Cys)
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2833C>T (p.His945Tyr)
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2983C>T (p.Arg995Trp) rs61750187
NM_000180.4(GUCY2D):c.3043+11C>T rs116870332
NM_000180.4(GUCY2D):c.3056A>C (p.His1019Pro) rs1429807175
NM_000180.4(GUCY2D):c.3078_3083dup (p.Leu1028_Arg1029insIleLeu)
NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile) rs281865409
NM_000180.4(GUCY2D):c.722-1G>T
NM_000180.4(GUCY2D):c.726del (p.Ile243fs)
NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp) rs138922415
NM_000180.4(GUCY2D):c.82dup (p.Arg28fs)
NM_000180.4(GUCY2D):c.839C>G (p.Thr280Arg) rs868557040
NM_000180.4(GUCY2D):c.91dup (p.Arg31fs) rs61749663
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr) rs62646883
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) rs62646883
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) rs1571164333
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) rs62653012
NM_000329.3(RPE65):c.1115del (p.Pro371_Leu372insTer)
NM_000329.3(RPE65):c.1129-2A>G rs1645826941
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1205_1206insCCTG (p.Trp402fs)
NM_000329.3(RPE65):c.1253T>A (p.Phe418Tyr)
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) rs34627040
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1336dup (p.Arg446fs)
NM_000329.3(RPE65):c.1360del (p.Thr454fs) rs2100807036
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) rs1645823028
NM_000329.3(RPE65):c.138del (p.Pro47fs) rs61752865
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) rs62637007
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1444G>A (p.Asp482Asn)
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.1459_1460del (p.Leu487fs)
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs) rs2100805193
NM_000329.3(RPE65):c.1580A>G (p.His527Arg) rs1194458561
NM_000329.3(RPE65):c.16G>T (p.Glu6Ter)
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg) rs1344724754
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn) rs1645931073
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) rs1260914084
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr) rs886042220
NM_000329.3(RPE65):c.354-2A>G
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser) rs1015895028
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) rs61752880
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro) rs767528365
NM_000329.3(RPE65):c.434C>A (p.Ala145Asp)
NM_000329.3(RPE65):c.495+1dup rs281865288
NM_000329.3(RPE65):c.496-1G>A rs2100821984
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) rs61752884
NM_000329.3(RPE65):c.545A>G (p.His182Arg) rs1459110114
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.596dup (p.Asn199fs)
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) rs61752888
NM_000329.3(RPE65):c.639dup (p.Ala214fs)
NM_000329.3(RPE65):c.675C>A (p.Ile225=) rs114379164
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.762G>T (p.Glu254Asp)
NM_000329.3(RPE65):c.778_785del (p.Asn260fs) rs63749059
NM_000329.3(RPE65):c.806_809delinsTGGAGCCATGAAG (p.Ser269_Leu270delinsMetGluProTer)
NM_000329.3(RPE65):c.825C>A (p.Tyr275Ter)
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) rs281865289
NM_000329.3(RPE65):c.859del rs2100818777
NM_000329.3(RPE65):c.886dup (p.Arg296fs) rs746127684
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000329.3(RPE65):c.903T>C (p.Asn301=)
NM_000329.3(RPE65):c.912C>A (p.Tyr304Ter)
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140
NM_000329.3(RPE65):c.997G>C (p.Gly333Arg)
NM_000329.3(RPE65):c.998+1G>A rs1645879495

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.