ClinVar Miner

List of variants reported as pathogenic by Sharon lab, Hadassah-Hebrew University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00087
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter) rs121918244 0.00011
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) rs200963831 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter) rs199636364 0.00006
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00006
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_018192.4(P3H2):c.1213C>T (p.Arg405Ter) rs377600857 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) rs387907268 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001242957.3(MAK):c.497G>A (p.Arg166His) rs387906648 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) rs1028371920 0.00002
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_002905.5(RDH5):c.572G>A (p.Arg191Gln) rs367757406 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) rs767745816 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_032119.4(ADGRV1):c.9679C>T (p.Arg3227Ter) rs267600727 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln) rs758303489 0.00002
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000260.4(MYO7A):c.2187+1G>A rs111033290 0.00001
NM_000260.4(MYO7A):c.3262C>T (p.Gln1088Ter) rs376535635 0.00001
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter) rs878864531 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000329.3(RPE65):c.95-2A>T rs61751279 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000440.3(PDE6A):c.2506+1G>A rs1561671507 0.00001
NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) rs774215025 0.00001
NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter) rs369937337 0.00001
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001252024.2(TRPM1):c.2633G>A (p.Trp878Ter) rs765645888 0.00001
NM_001252024.2(TRPM1):c.2695C>T (p.Arg899Ter) rs1485132228 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) rs104893678 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_001354768.3(NRL):c.91C>T (p.Arg31Ter) rs762991211 0.00001
NM_001370348.2(PHF3):c.*8063_*8068del rs1296130120 0.00001
NM_002905.5(RDH5):c.160C>T (p.Arg54Ter) rs769035379 0.00001
NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter) rs1588391640 0.00001
NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter) rs137853041 0.00001
NM_004183.4(BEST1):c.404G>A (p.Gly135Asp) rs1159966472 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_004183.4(BEST1):c.74G>A (p.Arg25Gln) rs281865215 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006214.4(PHYH):c.135-1G>C rs1057272016 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) rs770786127 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_024753.5(TTC21B):c.1088-1G>C rs753627675 0.00001
NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp) rs755071813 0.00001
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys) rs754275640 0.00001
NM_144499.3(GNAT1):c.460G>T (p.Asp154Tyr) rs1293620319 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574 0.00001
NM_153676.4(USH1C):c.497-2del rs1480243085 0.00001
NM_174878.3(CLRN1):c.433+1G>A rs201205811 0.00001
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) rs114342808 0.00001
NM_201548.5(CERKL):c.238+1G>A rs1276597208 0.00001
NM_201548.5(CERKL):c.2T>G (p.Met1Arg) rs1187991259 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_207352.4(CYP4V2):c.120C>G (p.Tyr40Ter) rs1481160549 0.00001
NC_000006.11:g.64666416_66194230del
NC_000006.11:g.65376653_65743428del
NC_000006.12:g.64349976_64426764del
NC_000012.12:g.1839550_1875411del
NC_000015.10:g.72708224_72722485del
NM_000180.4(GUCY2D):c.1992T>G (p.His664Gln) rs1598149187
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000260.4(MYO7A):c.1134_1146dup (p.Ser383fs) rs1591286671
NM_000260.4(MYO7A):c.2187+1G>T rs111033290
NM_000260.4(MYO7A):c.2307del (p.Asn769fs) rs1060499800
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.5069_5070insC (p.Gln1690fs) rs1591470904
NM_000260.4(MYO7A):c.6196C>T (p.Gln2066Ter) rs1060499801
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.900+1G>A rs1589700702
NM_000283.4(PDE6B):c.1417del (p.Leu473fs) rs1577288305
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp) rs759382635
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile) rs61753224
NM_000322.5(PRPH2):c.441del (p.Gly148fs) rs61755784
NM_000322.5(PRPH2):c.612C>G (p.Tyr204Ter) rs1554269081
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000329.3(RPE65):c.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.722A>T (p.His241Leu) rs1557600322
NM_000330.4(RS1):c.523-2A>G rs281865349
NM_000330.4(RS1):c.632C>T (p.Ala211Val) rs1602308821
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.3(ABCA4):c.1172del (p.Lys391fs) rs1570407032
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del) rs1570370826
NM_000350.3(ABCA4):c.4254-1G>A rs886044740
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs) rs1571257937
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs) rs1571256775
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter) rs1437993640
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) rs1571253050
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg) rs746252741
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro) rs1571252997
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs) rs1571245809
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000390.2:c.315_702del
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) rs1581166539
NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs) rs1581164936
NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs) rs1581217626
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) rs1599338484
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.548_638dup (p.Ile214fs) rs1578280574
NM_000929.3(PLA2G5):c.280dup (p.Val94fs) rs1569848362
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter) rs398123044
NM_001023570.4(IQCB1):c.1108dup (p.Met370fs) rs1576559094
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) rs1572829514
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1334C>G (p.Ser445Ter) rs1601940608
NM_001034853.2(RPGR):c.1572+1G>A rs1601931052
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter) rs1601924184
NM_001034853.2(RPGR):c.2173C>T (p.Gln725Ter) rs907856232
NM_001034853.2(RPGR):c.2221_2224del (p.Glu741fs) rs1601923578
NM_001034853.2(RPGR):c.2272G>T (p.Glu758Ter) rs1601923388
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.259G>T (p.Glu87Ter) rs1601978991
NM_001034853.2(RPGR):c.2772_2773dup (p.Gly925fs) rs1601920599
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2797del (p.Glu933fs) rs1346308311
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.592G>A (p.Gly198Arg) rs1601972255
NM_001034853.2(RPGR):c.897dup (p.Ile300fs) rs1601951704
NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val) rs1597041976
NM_001080442.3(SLC38A8):c.490_491del (p.Leu164fs) rs1597273765
NM_001080442.3(SLC38A8):c.95T>G (p.Ile32Ser) rs587777253
NM_001099271.2(POC5):c.304_305del (p.Thr101_Asp102insTer) rs1561480377
NM_001122769.3(LCA5):c.1171A>T (p.Lys391Ter) rs765473119
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1558AAT[1] (p.Asn521del) rs747069281
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.3715G>T (p.Glu1239Ter) rs1582932583
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs) rs1582376398
NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter) rs1582930081
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter) rs983691310
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter) rs878853350
NM_001142800.2(EYS):c.8105del (p.Asn2702fs) rs1582146096
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8167C>T (p.Gln2723Ter) rs1168129071
NM_001142800.2(EYS):c.9223_9232del (p.Asn3075fs) rs1582139308
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) rs1596687174
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs) rs1589313739
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs) rs1581727126
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter) rs1596029830
NM_001256789.3(CACNA1F):c.1015-2A>G rs1602653110
NM_001256789.3(CACNA1F):c.187_193dup (p.Ala65fs) rs1602658505
NM_001256789.3(CACNA1F):c.2225T>G (p.Phe742Cys) rs1602644716
NM_001256789.3(CACNA1F):c.2470G>T (p.Glu824Ter) rs1602641426
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2772del (p.Cys925fs) rs1602639607
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) rs1602630650
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001267727.2(ARSG):c.133G>T (p.Asp45Tyr) rs1568445893
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.1294del (p.Asp432fs) rs1574391103
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly) rs138958917
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) rs1558820134
NM_001330691.3(CEP78):c.534del (p.Lys179fs) rs1057517695
NM_001330691.3(CEP78):c.893-1G>A rs1057517694
NM_001354768.3(NRL):c.444_445insGCTGCGGG (p.Leu149fs) rs1594246708
NM_001368894.2(PAX6):c.10+1G>C rs1592610121
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378477.3(NYX):c.1054_1055del (p.Val352fs) rs1602181043
NM_001378477.3(NYX):c.1246_1247dup (p.Ala417fs) rs1602181253
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro) rs1602180791
NM_001379270.1(CNGA1):c.305del (p.Lys102fs) rs1560621807
NM_001379500.1(COL18A1):c.429dup (p.Ala144fs) rs1602456821
NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter) rs1597807758
NM_001793.6(CDH3):c.981del (p.Met327fs) rs724159984
NM_001844.5(COL2A1):c.1527+135G>A rs1592218346
NM_001844.5(COL2A1):c.842_843insT (p.Gly282fs) rs1592230091
NM_002602.4(PDE6G):c.187+1G>T rs1598717056
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) rs1588865728
NM_002905.5(RDH5):c.412del (p.Met138fs) rs1592521438
NM_002905.5(RDH5):c.547G>T (p.Glu183Ter) rs1592521712
NM_002905.5(RDH5):c.718dup (p.Ala240fs) rs753378940
NM_002905.5(RDH5):c.71_74del (p.Leu24fs) rs776634113
NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys) rs1581738478
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) rs1581736099
NM_003322.6(TULP1):c.1495+2dup rs1581735836
NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter) rs1581743256
NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs) rs1581742633
NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs) rs1581740762
NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser) rs1588350497
NM_003816.3(ADAM9):c.411-8A>G rs786205086
NM_004183.4(BEST1):c.294G>C (p.Glu98Asp) rs1591283793
NM_004183.4(BEST1):c.29C>T (p.Ala10Val) rs281865207
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg) rs1565388478
NM_004183.4(BEST1):c.620T>A (p.Leu207His) rs1591289408
NM_004183.4(BEST1):c.665G>T (p.Gly222Val) rs281865241
NM_004183.4(BEST1):c.874G>A (p.Glu292Lys) rs886039311
NM_004183.4(BEST1):c.887A>G (p.Asn296Ser) rs281865255
NM_004183.4(BEST1):c.908A>T (p.Asp303Val) rs1591301548
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) rs1589590737
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met) rs121434241
NM_004928.3(CFAP410):c.643-1G>C rs1602071514
NM_004928.3(CFAP410):c.643-2A>G rs1602071524
NM_005709.4(USH1C):c.1220del (p.Gly407fs) rs1207247951
NM_005802.5(TOPORS):c.2524dup (p.Thr842fs) rs1587620892
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter) rs1585563328
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122
NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del) rs1176869304
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter) rs1573920009
NM_006915.3(RP2):c.102+1G>T rs1602342663
NM_006915.3(RP2):c.25_28del (p.Lys10fs) rs1602342597
NM_006915.3(RP2):c.2T>C (p.Met1Thr) rs797044561
NM_006915.3(RP2):c.352C>T (p.Arg118Cys) rs1556318633
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.364del (p.Cys122fs) rs1602347786
NM_006915.3(RP2):c.530_531del (p.Phe177fs) rs1602347851
NM_012106.4(ARL2BP):c.101-1G>C rs879255568
NM_012106.4(ARL2BP):c.38+2T>G rs1597951232
NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del) rs747812103
NM_014249.4(NR2E3):c.1038G>C (p.Gln346His) rs1595957521
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.747+1G>C rs1595956702
NM_014336.5(AIPL1):c.211G>T (p.Val71Phe) rs775364986
NM_014336.5(AIPL1):c.215G>A (p.Trp72Ter) rs1468041544
NM_014336.5(AIPL1):c.99del (p.Ile34fs) rs1597340989
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_015072.5(TTLL5):c.2136+1G>A rs1595009158
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) rs1184467860
NM_015629.4(PRPF31):c.689del (p.Lys230fs) rs1600342032
NM_015629.4(PRPF31):c.697+1G>A rs1600342050
NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) rs786205564
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter) rs267606874
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.2328del (p.Arg777fs) rs1585941011
NM_019098.5(CNGB3):c.819del (p.Arg274fs) rs1586003680
NM_020184.4(CNNM4):c.1494C>A (p.Asp498Glu) rs776159012
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) rs1371805993
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs) rs1594224781
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs) rs1594280914
NM_020843.4(SCAPER):c.2023-2A>G rs1555558169
NM_020964.3(EPG5):c.3447G>A (p.Trp1149Ter) rs886276412
NM_021831.6(AGBL5):c.1787_1788del (p.His596fs) rs1285501658
NM_024649.5(BBS1):c.767del (p.Gln256fs) rs1590762360
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024741.3(ZNF408):c.1697T>A (p.Leu566His) rs1425566595
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.4771C>T (p.Gln1591Ter) rs62640574
NM_025114.4(CEP290):c.5788A>T (p.Lys1930Ter) rs1592784618
NM_031885.5(BBS2):c.224T>G (p.Val75Gly) rs121908174
NM_032119.4(ADGRV1):c.12125del (p.Met4042fs) rs1581041519
NM_032119.4(ADGRV1):c.15494del (p.Lys5165fs) rs1581196586
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) rs121434632
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1485+2T>G rs767366723
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu) rs794726954
NM_133497.4(KCNV2):c.411_414del (p.Leu138fs) rs1586686845
NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del) rs1586687216
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs) rs986350598
NM_144499.3(GNAT1):c.8del (p.Ala3fs) rs1575415957
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.658+1G>A rs387906272
NM_152443.3(RDH12):c.759del (p.Phe254fs) rs1594867516
NM_152443.3(RDH12):c.821T>C (p.Leu274Pro) rs1594867597
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs) rs1588579347
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_173477.5(USH1G):c.205dup (p.Leu69fs) rs1598584825
NM_174878.3(CLRN1):c.349_358del (p.Ala117fs) rs1576631624
NM_176824.3(BBS7):c.87_88del (p.His29fs) rs1578577361
NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg) rs387907137
NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) rs137852858
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) rs62645754
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) rs1571540258
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) rs1571544281
NM_201253.3(CRB1):c.4005+1G>A rs890453675
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) rs281865175
NM_201253.3(CRB1):c.424G>T (p.Gly142Ter) rs1571848659
NM_201548.5(CERKL):c.450_451del (p.Ile150fs) rs1574489337
NM_206933.4(USH2A):c.10211del (p.Pro3404fs) rs1571686349
NM_206933.4(USH2A):c.12114del (p.Tyr4039fs) rs1571953449
NM_206933.4(USH2A):c.14023A>T (p.Arg4675Ter) rs1571945476
NM_206933.4(USH2A):c.14424C>A (p.Cys4808Ter) rs1553250184
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs) rs1553258097
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.5519G>T (p.Gly1840Val) rs1571941511
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_207352.4(CYP4V2):c.1123del (p.Asp374_Leu375insTer) rs1579976512

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