ClinVar Miner

List of variants reported for Optic atrophy by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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ClinVar version:
Total variants: 442
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HGVS dbSNP gnomAD frequency
NM_001099271.2(POC5):c.337C>T (p.Pro113Ser) rs79392300 0.00913
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00239
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_145290.4(ADGRA3):c.1582G>A (p.Gly528Ser) rs61745011 0.00146
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser) rs184500376 0.00122
NM_025103.4(IFT74):c.665T>C (p.Met222Thr) rs144847384 0.00121
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_001029883.3(PCARE):c.2502T>C (p.Pro834=) rs184644658 0.00106
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) rs186714117 0.00087
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00070
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_001177701.3(IFT27):c.503C>T (p.Ala168Val) rs118095726 0.00066
NM_144643.4(SCLT1):c.447A>T (p.Glu149Asp) rs140181990 0.00066
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_145290.4(ADGRA3):c.989G>A (p.Arg330His) rs150340074 0.00058
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) rs55749855 0.00053
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met) rs200057861 0.00052
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014444.5(TUBGCP4):c.1652G>A (p.Arg551Gln) rs199517801 0.00051
NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys) rs749409983 0.00050
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00047
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln) rs138511988 0.00046
NM_022367.4(SEMA4A):c.1301T>C (p.Met434Thr) rs146822426 0.00044
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_001164665.2(KIAA1549):c.598A>G (p.Met200Val) rs371772877 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_032730.5(RTN4IP1):c.685G>T (p.Asp229Tyr) rs138679791 0.00041
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_005559.4(LAMA1):c.5789C>T (p.Thr1930Met) rs142286229 0.00036
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly) rs780301238 0.00035
NM_001252024.2(TRPM1):c.4645G>C (p.Asp1549His) rs117105175 0.00033
NM_006343.3(MERTK):c.98C>T (p.Pro33Leu) rs144751432 0.00033
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960 0.00032
NM_001379286.1(ZNF423):c.2531C>T (p.Ala844Val) rs201213567 0.00032
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215 0.00027
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767 0.00026
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) rs200684841 0.00026
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr) rs148162562 0.00024
NM_015909.4(NBAS):c.4085C>A (p.Thr1362Lys) rs144520644 0.00024
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00023
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu) rs373341530 0.00023
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val) rs138682354 0.00021
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys) rs112967046 0.00020
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_001004334.4(GPR179):c.5083G>A (p.Glu1695Lys) rs199697891 0.00017
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_007186.6(CEP250):c.4632G>T (p.Gln1544His) rs138568893 0.00015
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_153240.5(NPHP3):c.3570+4A>G rs374989123 0.00013
NM_006343.3(MERTK):c.2069C>T (p.Thr690Ile) rs139822416 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_001379286.1(ZNF423):c.1132G>A (p.Ala378Thr) rs199760788 0.00011
NM_033100.4(CDHR1):c.1453G>A (p.Ala485Thr) rs532268197 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_178857.6(RP1L1):c.71C>T (p.Thr24Ile) rs771358254 0.00011
NM_001039348.3(EFEMP1):c.637G>A (p.Val213Ile) rs369629631 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_001017979.3(RAB28):c.22A>T (p.Ser8Cys) rs563578751 0.00009
NM_001329556.3(REEP6):c.535C>T (p.Arg179Cys) rs529651864 0.00009
NM_001330691.3(CEP78):c.139G>A (p.Ala47Thr) rs770673349 0.00009
NM_001377.3(DYNC2H1):c.9655G>A (p.Glu3219Lys) rs376974461 0.00009
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) rs200410468 0.00009
NM_006005.3(WFS1):c.976G>A (p.Ala326Thr) rs200790641 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_032730.5(RTN4IP1):c.962G>C (p.Gly321Ala) rs145695118 0.00009
NM_032898.5(CEP19):c.93G>C (p.Gln31His) rs201359879 0.00009
NM_198428.3(BBS9):c.2509A>G (p.Met837Val) rs771310981 0.00009
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg) rs767725140 0.00008
NM_000180.4(GUCY2D):c.2441C>T (p.Thr814Met) rs150742659 0.00007
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_006204.4(PDE6C):c.1979C>G (p.Thr660Arg) rs767703174 0.00006
NM_014249.4(NR2E3):c.645C>T (p.Cys215=) rs375133059 0.00006
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236 0.00006
NM_000327.4(ROM1):c.671C>T (p.Pro224Leu) rs781488213 0.00005
NM_001297.5(CNGB1):c.610G>A (p.Gly204Arg) rs201654405 0.00005
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln) rs562377533 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met) rs377360782 0.00005
NM_006899.5(IDH3B):c.830T>C (p.Ile277Thr) rs761437016 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_130837.3(OPA1):c.-3G>A rs964787052 0.00005
NM_000313.4(PROS1):c.1816G>A (p.Val606Ile) rs371885410 0.00004
NM_000539.3(RHO):c.660T>G (p.Phe220Leu) rs141956356 0.00004
NM_001127649.3(PEX26):c.548G>A (p.Gly183Asp) rs146904462 0.00004
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) rs72653786 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_015909.4(NBAS):c.7022C>T (p.Ala2341Val) rs749416685 0.00004
NM_198506.5(LRIT3):c.1286G>A (p.Ser429Asn) rs201714421 0.00004
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) rs199831541 0.00003
NM_007186.6(CEP250):c.3401C>T (p.Thr1134Met) rs545422424 0.00003
NM_020461.4(TUBGCP6):c.1441G>A (p.Ala481Thr) rs750355124 0.00003
NM_025114.4(CEP290):c.2447G>A (p.Arg816His) rs768448895 0.00003
NM_032730.5(RTN4IP1):c.308G>A (p.Arg103His) rs372054380 0.00003
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln) rs745471670 0.00003
NM_000326.5(RLBP1):c.212A>G (p.Gln71Arg) rs913607874 0.00002
NM_000350.3(ABCA4):c.5069T>C (p.Met1690Thr) rs1333985048 0.00002
NM_001012720.2(RGR):c.296C>T (p.Ala99Val) rs773435796 0.00002
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser) rs71532862 0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys) rs750732884 0.00002
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr) rs780611674 0.00001
NM_001004334.4(GPR179):c.1573C>T (p.Arg525Ter) rs773022324 0.00001
NM_001004334.4(GPR179):c.2992G>A (p.Ala998Thr) rs551318324 0.00001
NM_001170700.3(DTHD1):c.1582A>G (p.Ile528Val) rs1215637414 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001378454.1(ALMS1):c.6218A>G (p.Lys2073Arg) rs1381524403 0.00001
NM_001851.6(COL9A1):c.437T>G (p.Ile146Ser) rs780230984 0.00001
NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) rs200239015 0.00001
NM_006005.3(WFS1):c.1540C>T (p.Leu514Phe) rs781498347 0.00001
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr) rs145639028 0.00001
NM_006204.4(PDE6C):c.548C>T (p.Pro183Leu) rs753424342 0.00001
NM_015909.4(NBAS):c.4561G>C (p.Glu1521Gln) rs1036475904 0.00001
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys) rs747517141 0.00001
NM_016026.4(RDH11):c.55A>G (p.Met19Val) rs748351968 0.00001
NM_017739.4(POMGNT1):c.1975C>T (p.Gln659Ter) rs766290773 0.00001
NM_018418.5(SPATA7):c.1427C>T (p.Ser476Leu) rs545998461 0.00001
NM_020461.4(TUBGCP6):c.4199G>A (p.Arg1400His) rs745344235 0.00001
NM_022124.6(CDH23):c.1153A>T (p.Met385Leu) rs772474417 0.00001
NM_024685.4(BBS10):c.955G>C (p.Val319Leu) rs769233464 0.00001
NM_133497.4(KCNV2):c.220G>A (p.Glu74Lys) rs756949524 0.00001
NM_172364.5(CACNA2D4):c.1617G>C (p.Glu539Asp) rs767999612 0.00001
NM_172364.5(CACNA2D4):c.2470+3A>G rs972139903 0.00001
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017 0.00001
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys) rs1368683731 0.00001
NC_000003.12:g.(?_193593377)_(193593410_193614722)del
NC_000003.12:g.(?_193593498)_(193593498_193614983)del
NC_000003.12:g.(?_193593498)_(193618878_193626118)del
NC_000003.12:g.(?_193593498)_(193694763_?)del
NC_000005.10:g.(?_93585023)_(93593843_?)del
NC_012920.1(MT-ND1):m.3388C>A rs387906730
NC_012920.1(MT-ND1):m.3394T>C rs41460449
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND4):m.11778G>A rs199476112
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NM_000180.4(GUCY2D):c.2413-7C>A
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000278.5(PAX2):c.842A>G (p.Lys281Arg)
NM_000291.4(PGK1):c.1154C>T (p.Thr385Met)
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000321.3(RB1):c.969A>C (p.Glu323Asp)
NM_000327.4(ROM1):c.835C>T (p.Gln279Ter)
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.3813G>C (p.Glu1271Asp)
NM_000350.3(ABCA4):c.769-784C>T
NM_000370.3(TTPA):c.819T>G (p.Ile273Met)
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000466.3(PEX1):c.2393G>A (p.Arg798His)
NM_000466.3(PEX1):c.3610A>G (p.Lys1204Glu)
NM_000843.4(GRM6):c.49C>A (p.Pro17Thr) rs1329916303
NM_001004334.4(GPR179):c.1345C>T (p.Arg449Cys)
NM_001004334.4(GPR179):c.362C>T (p.Ser121Phe)
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro) rs370203821
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001034853.2(RPGR):c.1114G>T (p.Ala372Ser)
NM_001034853.2(RPGR):c.2667G>A (p.Glu889=)
NM_001034853.2(RPGR):c.2715A>G (p.Glu905=)
NM_001034853.2(RPGR):c.2715A>T (p.Glu905Asp)
NM_001098.3(ACO2):c.-8T>C
NM_001098.3(ACO2):c.1360C>T (p.Gln454Ter)
NM_001098.3(ACO2):c.1371-1G>C
NM_001098.3(ACO2):c.197C>T (p.Ser66Leu)
NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) rs752034900
NM_001098.3(ACO2):c.1994A>G (p.Tyr665Cys)
NM_001098.3(ACO2):c.2006C>T (p.Ser669Leu) rs764832926
NM_001098.3(ACO2):c.2209-1G>T
NM_001098.3(ACO2):c.2275_2277del (p.Asn759del)
NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) rs786204830
NM_001098.3(ACO2):c.36G>A (p.Gln12=)
NM_001122769.3(LCA5):c.1316G>A (p.Gly439Glu)
NM_001134831.2(AHI1):c.2512G>A (p.Val838Ile)
NM_001164665.2(KIAA1549):c.509G>A (p.Arg170Gln)
NM_001164665.2(KIAA1549):c.676G>T (p.Ala226Ser)
NM_001166114.2(PNPLA6):c.2281C>T (p.Pro761Ser)
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val)
NM_001252024.2(TRPM1):c.3907G>C (p.Glu1303Gln) rs117855013
NM_001256789.3(CACNA1F):c.4100+2T>C
NM_001256789.3(CACNA1F):c.4466C>G (p.Pro1489Arg)
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001278293.3(ARL6):c.482C>T (p.Ala161Val) rs1188627299
NM_001346022.3(USP45):c.1082C>T (p.Thr361Met)
NM_001367823.1(ARHGEF18):c.3719C>T (p.Ala1240Val)
NM_001367823.1(ARHGEF18):c.3986del (p.Gly1329fs) rs776138789
NM_001377.3(DYNC2H1):c.10642A>G (p.Ile3548Val)
NM_001377.3(DYNC2H1):c.5266A>T (p.Met1756Leu)
NM_001378454.1(ALMS1):c.3761C>G (p.Pro1254Arg)
NM_001378615.1(CC2D2A):c.123+5G>C
NM_001379270.1(CNGA1):c.-15+10296G>A
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg) rs2151705854
NM_001385641.1(SAMD11):c.1451C>T (p.Pro484Leu) rs200038862
NM_001386393.1(PANK2):c.535A>G (p.Thr179Ala)
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) rs1057524199
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup) rs72555376
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) rs781285980
NM_003143.3(SSBP1):c.13C>T (p.Pro5Ser)
NM_003835.4(RGS9):c.1726G>T (p.Ala576Ser)
NM_004727.3(SLC24A1):c.2643GGA[3] (p.Glu888_Glu890del)
NM_004798.4(KIF3B):c.-122GCC[13]
NM_004798.4(KIF3B):c.329G>A (p.Arg110His)
NM_005468.3(NAALADL1):c.1087G>A (p.Val363Met)
NM_005468.3(NAALADL1):c.1198+7C>T
NM_005468.3(NAALADL1):c.1509-1G>A
NM_005559.4(LAMA1):c.*11G>A
NM_005559.4(LAMA1):c.1004A>G (p.Asp335Gly)
NM_005559.4(LAMA1):c.7024C>A (p.Leu2342Ile)
NM_005654.6(NR2F1):c.1047del (p.Gln349fs)
NM_005802.5(TOPORS):c.1208A>G (p.Glu403Gly)
NM_005802.5(TOPORS):c.2707C>T (p.Arg903Cys)
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
NM_005869.4(CWC27):c.155C>A (p.Thr52Asn)
NM_006005.3(WFS1):c.1042G>C (p.Val348Leu)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.1297G>C (p.Ala433Pro)
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.1444A>C (p.Lys482Gln) rs2109125928
NM_006005.3(WFS1):c.1831_1832delinsTA (p.Arg611Tyr) rs863224266
NM_006005.3(WFS1):c.1943G>A (p.Trp648Ter) rs150465110
NM_006005.3(WFS1):c.2038G>C (p.Glu680Gln)
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2260C>T (p.Leu754Phe)
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)
NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro) rs56393026
NM_006005.3(WFS1):c.439del (p.Arg147fs) rs1560408865
NM_006005.3(WFS1):c.605A>G (p.Glu202Gly) rs1064794257
NM_006005.3(WFS1):c.631+4C>T rs377209257
NM_006005.3(WFS1):c.682C>T (p.Arg228Cys)
NM_006005.3(WFS1):c.861_861+8del
NM_006005.3(WFS1):c.923C>G (p.Ser308Cys) rs2109125016
NM_006005.3(WFS1):c.949A>C (p.Thr317Pro)
NM_006005.3(WFS1):c.968A>G (p.His323Arg) rs1057368575
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006343.3(MERTK):c.85G>T (p.Ala29Ser)
NM_006899.5(IDH3B):c.-11C>T
NM_007186.6(CEP250):c.1126T>C (p.Phe376Leu)
NM_007186.6(CEP250):c.1729A>C (p.Ile577Leu)
NM_012193.4(FZD4):c.869C>T (p.Pro290Leu)
NM_012338.4(TSPAN12):c.466G>A (p.Glu156Lys)
NM_014264.5(PLK4):c.1358+1G>T
NM_014425.5(INVS):c.2085T>A (p.His695Gln)
NM_014444.5(TUBGCP4):c.377T>A (p.Leu126Gln)
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014855.3(AP5Z1):c.2117C>G (p.Thr706Arg) rs752688603
NM_014855.3(AP5Z1):c.2287G>T (p.Val763Leu)
NM_015072.5(TTLL5):c.889A>G (p.Ser297Gly)
NM_015102.5(NPHP4):c.2389G>C (p.Val797Leu)
NM_015272.5(RPGRIP1L):c.1904A>G (p.Tyr635Cys)
NM_015909.4(NBAS):c.197A>G (p.Tyr66Cys)
NM_015909.4(NBAS):c.2936A>T (p.Asp979Val)
NM_015909.4(NBAS):c.809G>A (p.Gly270Asp)
NM_015910.7(WDPCP):c.208+3A>G
NM_017777.4(MKS1):c.1531A>C (p.Ser511Arg)
NM_017777.4(MKS1):c.473G>A (p.Arg158Gln) rs373471917
NM_018418.5(SPATA7):c.1301A>G (p.Asp434Gly)
NM_019008.6(MIEF1):c.1013G>A (p.Arg338Gln)
NM_020366.4(RPGRIP1):c.391G>A (p.Val131Ile)
NM_020843.4(SCAPER):c.1378_1380del (p.Asn460del)
NM_020843.4(SCAPER):c.1496-9T>C
NM_020843.4(SCAPER):c.2419C>T (p.Leu807Phe)
NM_020843.4(SCAPER):c.2544T>G (p.Ile848Met)
NM_020843.4(SCAPER):c.3443C>T (p.Thr1148Ile)
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) rs142416793
NM_021728.4(OTX2):c.683G>A (p.Ser228Asn)
NM_021728.4(OTX2):c.6G>A (p.Met2Ile)
NM_021999.5(ITM2B):c.625A>G (p.Ile209Val)
NM_022124.6(CDH23):c.3448T>C (p.Phe1150Leu)
NM_022124.6(CDH23):c.7762G>A (p.Glu2588Lys)
NM_022367.4(SEMA4A):c.1811C>G (p.Thr604Ser)
NM_022367.4(SEMA4A):c.981G>T (p.Gln327His)
NM_022821.4(ELOVL1):c.13G>A (p.Val5Met)
NM_024417.5(FDXR):c.1351C>T (p.Arg451Trp)
NM_024741.3(ZNF408):c.1461G>A (p.Met487Ile)
NM_024741.3(ZNF408):c.2157del (p.Thr720fs)
NM_025103.4(IFT74):c.1790_1791delinsTT (p.Thr597Ile) rs2131720086
NM_025114.4(CEP290):c.3880C>A (p.Gln1294Lys)
NM_025114.4(CEP290):c.4596C>G (p.His1532Gln)
NM_025132.4(WDR19):c.1169C>A (p.Pro390His)
NM_025132.4(WDR19):c.2405T>A (p.Ile802Lys)
NM_025136.4(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_031433.4(MFRP):c.179G>A (p.Arg60Gln) rs745791741
NM_031475.3(ESPN):c.1314_1325del (p.Pro441_Pro444del)
NM_031475.3(ESPN):c.1633G>T (p.Ala545Ser)
NM_032108.4(SEMA6B):c.1223C>T (p.Ala408Val)
NM_032108.4(SEMA6B):c.1967A>G (p.Glu656Gly)
NM_032108.4(SEMA6B):c.2053A>G (p.Met685Val)
NM_032119.4(ADGRV1):c.11185C>A (p.Pro3729Thr)
NM_032317.3(DNAJC30):c.172dup (p.Ser58fs)
NM_130837.3(OPA1):c.1013del (p.Asn338fs)
NM_130837.3(OPA1):c.1035+4_1035+5inv
NM_130837.3(OPA1):c.1036-9del
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe) rs863224131
NM_130837.3(OPA1):c.1049G>T (p.Gly350Val)
NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)
NM_130837.3(OPA1):c.112C>T (p.Arg38Ter) rs761460379
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1149+1_1149+5del
NM_130837.3(OPA1):c.1150-15_1151del
NM_130837.3(OPA1):c.115A>C (p.Ser39Arg)
NM_130837.3(OPA1):c.1230+1G>A rs80356528
NM_130837.3(OPA1):c.1230+2T>C
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) rs104893753
NM_130837.3(OPA1):c.1305+2T>G
NM_130837.3(OPA1):c.1305+5G>C
NM_130837.3(OPA1):c.1305G>A (p.Glu435=)
NM_130837.3(OPA1):c.1352T>G (p.Leu451Arg) rs727504060
NM_130837.3(OPA1):c.1353_1354insACCA (p.Val452fs)
NM_130837.3(OPA1):c.1355T>G (p.Val452Gly)
NM_130837.3(OPA1):c.1363C>G (p.Pro455Ala)
NM_130837.3(OPA1):c.1377+1G>T rs2109043749
NM_130837.3(OPA1):c.1377+5G>A
NM_130837.3(OPA1):c.1383del (p.Thr462fs)
NM_130837.3(OPA1):c.1411del (p.Glu471fs)
NM_130837.3(OPA1):c.1442T>G (p.Met481Arg)
NM_130837.3(OPA1):c.1477G>C (p.Asp493His)
NM_130837.3(OPA1):c.1478A>G (p.Asp493Gly)
NM_130837.3(OPA1):c.1478A>T (p.Asp493Val) rs1734162973
NM_130837.3(OPA1):c.1480_1483del
NM_130837.3(OPA1):c.1481G>A (p.Gly494Glu)
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1515dup (p.Val507fs)
NM_130837.3(OPA1):c.1535del (p.Pro512fs)
NM_130837.3(OPA1):c.1541G>A (p.Gly514Glu)
NM_130837.3(OPA1):c.154C>T (p.Arg52Ter) rs1560327427
NM_130837.3(OPA1):c.1567A>G (p.Lys523Glu)
NM_130837.3(OPA1):c.1589dup (p.Asn530fs)
NM_130837.3(OPA1):c.1681+1G>A
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1756A>G (p.Thr586Ala)
NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg) rs398124298
NM_130837.3(OPA1):c.1808_1810del (p.Val603_Ser604delinsAla)
NM_130837.3(OPA1):c.1834C>T (p.Arg612Ter) rs398124299
NM_130837.3(OPA1):c.1871-3C>G
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.1935G>T (p.Arg645=)
NM_130837.3(OPA1):c.1989_1992del (p.Ser664fs)
NM_130837.3(OPA1):c.2012+1G>C rs863224134
NM_130837.3(OPA1):c.2012+4_2012+7del
NM_130837.3(OPA1):c.2013-6T>G
NM_130837.3(OPA1):c.2039G>A (p.Trp680Ter)
NM_130837.3(OPA1):c.2041del (p.Glu681fs)
NM_130837.3(OPA1):c.2057_2058del (p.His686fs) rs1713427542
NM_130837.3(OPA1):c.2160_2163del (p.Pro721fs)
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter) rs1553784985
NM_130837.3(OPA1):c.240T>A (p.Tyr80Ter)
NM_130837.3(OPA1):c.2439_2440+3dup
NM_130837.3(OPA1):c.2441-3dup
NM_130837.3(OPA1):c.2468G>A (p.Gly823Asp)
NM_130837.3(OPA1):c.2499G>A (p.Trp833Ter) rs1553785338
NM_130837.3(OPA1):c.2521-1G>A
NM_130837.3(OPA1):c.2521-8T>G rs1064797303
NM_130837.3(OPA1):c.2631del (p.Glu877fs)
NM_130837.3(OPA1):c.2661+1G>A rs794727392
NM_130837.3(OPA1):c.2672del (p.Thr891fs)
NM_130837.3(OPA1):c.2708_2711del (p.Thr903fs)
NM_130837.3(OPA1):c.2779-2A>C
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2796_2798del (p.Val933del)
NM_130837.3(OPA1):c.2815C>T (p.Gln939Ter) rs2109268057
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2878C>T (p.Arg960Ter)
NM_130837.3(OPA1):c.295_301dup (p.Arg101fs)
NM_130837.3(OPA1):c.2981T>C (p.Leu994Pro)
NM_130837.3(OPA1):c.2983+2T>C
NM_130837.3(OPA1):c.2983+4A>G
NM_130837.3(OPA1):c.2983delA (p.Lys995fs)
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)
NM_130837.3(OPA1):c.3011T>G (p.Leu1004Arg)
NM_130837.3(OPA1):c.352-2_556+69del
NM_130837.3(OPA1):c.406_412delinsCCC (p.Val136fs)
NM_130837.3(OPA1):c.611-8_611-3del rs1553872701
NM_130837.3(OPA1):c.6G>A (p.Trp2Ter)
NM_130837.3(OPA1):c.794C>A (p.Ser265Ter) rs863224127
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.814C>T (p.Gln272Ter)
NM_130837.3(OPA1):c.820C>T (p.Gln274Ter) rs1732086609
NM_130837.3(OPA1):c.868C>T (p.Arg290Ter) rs761743852
NM_130837.3(OPA1):c.91C>T (p.Gln31Ter)
NM_130837.3(OPA1):c.949-1G>A
NM_130837.3(OPA1):c.983A>C (p.Asp328Ala)
NM_130837.3:c.(1754+1_1755-1)_(2012+1_2013-1)del
NM_130837.3:c.(2778+1_2779-1)_(2983+1_2984-1)del
NM_130837.3:c.(610+1_611-1)_(678+1_679-1)del
NM_130837.3:c.(843+1_844-1)_(1149+1_1150-1)dup
NM_130837.3:c.(948+1_949-1)_(1149+1_1150-1)del
NM_144631.6(ZNF513):c.340G>C (p.Glu114Gln)
NM_145200.5(CABP4):c.284A>G (p.Gln95Arg)
NM_152269.5(MTRFR):c.433_457del (p.Ala145fs)
NM_153240.5(NPHP3):c.519+2T>C
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.2314G>A (p.Val772Met)
NM_153676.4(USH1C):c.2375G>A (p.Arg792Gln)
NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs) rs672601379
NM_176824.3(BBS7):c.22A>T (p.Met8Leu) rs757370927
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.4084G>T (p.Ala1362Ser)
NM_203288.2(RP9):c.437G>A (p.Arg146Gln)
NM_206933.4(USH2A):c.3812-12T>G
NM_207352.4(CYP4V2):c.1090+1G>C
NM_207352.4(CYP4V2):c.143G>C (p.Arg48Pro) rs1735998479

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