ClinVar Miner

List of variants reported as pathogenic for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625 0.00037
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) rs146195955 0.00033
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) rs201747279 0.00019
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_001708.2(OPN1SW):c.235G>A (p.Gly79Arg) rs104894031 0.00017
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) rs777989874 0.00016
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) rs104893615 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614 0.00010
NM_001378477.3(NYX):c.1034G>A (p.Trp345Ter) rs62637037 0.00010
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197 0.00009
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
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_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 0.00006
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_198506.5(LRIT3):c.1318C>T (p.Arg440Ter) rs397509378 0.00006
NM_000180.4(GUCY2D):c.2281C>T (p.Arg761Trp) rs200637525 0.00005
NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter) rs62638624 0.00005
NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr) rs62638208 0.00004
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) rs137852608 0.00004
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00004
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) rs552069173 0.00004
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001708.2(OPN1SW):c.790C>T (p.Pro264Ser) rs104894033 0.00004
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 0.00004
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) rs1028838062 0.00004
NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_000843.4(GRM6):c.448G>A (p.Gly150Ser) rs62638202 0.00003
NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys) rs281875236 0.00003
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His) rs775810789 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) rs777509481 0.00003
NM_002075.4(GNB3):c.200C>T (p.Ser67Phe) rs140263599 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_144499.3(GNAT1):c.359C>A (p.Ser120Ter) rs778497200 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter) rs397509379 0.00003
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys) rs387906862 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859 0.00002
NM_001298.3(CNGA3):c.450-1G>A rs754158805 0.00002
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter) rs1402442627 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521 0.00002
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.1663-1205G>A rs1000861056 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_145200.5(CABP4):c.292C>T (p.Arg98Ter) rs777555935 0.00002
NM_145200.5(CABP4):c.673C>T (p.Arg225Ter) rs531851447 0.00002
NM_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) rs376610215 0.00002
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter) rs387907138 0.00001
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=) rs768701595 0.00001
NM_001252024.2(TRPM1):c.1898C>A (p.Pro633His) rs267607139 0.00001
NM_001252024.2(TRPM1):c.2087+2T>C rs766862238 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.1840C>T (p.Arg614Ter) rs886039559 0.00001
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739 0.00001
NM_001256789.3(CACNA1F):c.2543+1G>A rs886044841 0.00001
NM_001256789.3(CACNA1F):c.4051C>T (p.Arg1351Ter) rs782740998 0.00001
NM_001256789.3(CACNA1F):c.5446C>T (p.Arg1816Ter) rs782034481 0.00001
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) rs1464167194 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter) rs1553450764 0.00001
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His) rs1330420689 0.00001
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) rs763041373 0.00001
NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys) rs774676415 0.00001
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) rs104893612 0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) rs762773298 0.00001
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722 0.00001
NM_001377295.2(GNAT2):c.937C>T (p.Arg313Ter) rs748981899 0.00001
NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) rs1410075831 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) rs756324901 0.00001
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) rs770786127 0.00001
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139 0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) rs200805087 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter) rs371318766 0.00001
NM_019098.5(CNGB3):c.852+1G>C rs1201521544 0.00001
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) rs1290241933 0.00001
NC_000002.12:g.98393909_98399093del
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]
NC_000015.10:g.(?_31001061)_(31161273_?)del
NC_000023.11:g.(154153459_154153462)_(154154925_154154928)del
NG_016453.2:g.66830_103274del
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
NM_000180.4(GUCY2D):c.2618C>G (p.Pro873Arg) rs1567961680
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.772C>A (p.His258Asn) rs121918582
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter) rs61751398
NM_000513.2(OPN1MW):c.-112A>C rs724159983
NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys) rs104894915
NM_000513.2(OPN1MW):c.529T>C (p.Trp177Arg) rs267606927
NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) rs104894914
NM_000513.2(OPN1MW):c.807_948del (p.Met269fs) rs2148787747
NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln) rs104894916
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) rs104893790
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) rs104893789
NM_000541.5(SAG):c.648+1G>C rs1700648887
NM_000541.5(SAG):c.874C>T (p.Arg292Ter) rs397514681
NM_000843.4(GRM6):c.1336C>T (p.Arg446Ter) rs764476239
NM_000843.4(GRM6):c.577del (p.Val193fs) rs781463257
NM_000843.4(GRM6):c.722-1G>T rs766594761
NM_000843.4(GRM6):c.727dup rs281865186
NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)
NM_001004334.4(GPR179):c.1784+1G>A rs773126191
NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr) rs281875234
NM_001004334.4(GPR179):c.187del (p.Leu63fs) rs794726686
NM_001004334.4(GPR179):c.278del (p.Pro93fs) rs794726685
NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs) rs1567728372
NM_001004334.4(GPR179):c.984del (p.Ser329fs) rs770066665
NM_001024630.4(RUNX2):c.*3160G>T rs1200428
NM_001252024.2(TRPM1):c.1089+3_1089+6del rs772011426
NM_001252024.2(TRPM1):c.1305_1324del (p.Glu436fs)
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter) rs1195734631
NM_001252024.2(TRPM1):c.2711C>A (p.Ser904Ter) rs786205113
NM_001252024.2(TRPM1):c.3171T>A (p.Tyr1057Ter) rs267607140
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001252024.2(TRPM1):c.4793_4796dup (p.Ser1600fs) rs2031777349
NM_001252024.2(TRPM1):c.482del (p.Gly161fs) rs1226505973
NM_001252024.2(TRPM1):c.946A>T (p.Lys316Ter) rs1596029830
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter) rs267607141
NM_001256789.3(CACNA1F):c.1044del (p.Trp349fs)
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.1218del (p.Trp407fs) rs1557110192
NM_001256789.3(CACNA1F):c.1723del (p.Ser575fs) rs2065808928
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.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.3153G>A (p.Trp1051Ter) rs2065717735
NM_001256789.3(CACNA1F):c.3921G>A (p.Trp1307Ter) rs1602630650
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs) rs2147895629
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312
NM_001256789.3(CACNA1F):c.694A>T (p.Lys232Ter) rs1057518829
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) rs958089715
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr) rs1553450734
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs) rs1692914478
NM_001298.3(CNGA3):c.1255T>C (p.Ser419Pro) rs371558158
NM_001298.3(CNGA3):c.1294del (p.Asp432fs) rs1574391103
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs) rs1558820471
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) rs1553450762
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs)
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) rs745592705
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) rs786205532
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617
NM_001298.3(CNGA3):c.1749del (p.Leu584fs) rs2104250161
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) rs1692508715
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter) rs1692509021
NM_001298.3(CNGA3):c.464del (p.Lys155fs) rs2104229154
NM_001298.3(CNGA3):c.499del (p.Leu167fs) rs1692739030
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly) rs138958917
NM_001298.3(CNGA3):c.674-1G>A rs949254623
NM_001298.3(CNGA3):c.704A>T (p.Asp235Val) rs1692898861
NM_001298.3(CNGA3):c.77del (p.Asn26fs) rs2104175554
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) rs104893616
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) rs1692904914
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) rs1558820134
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_001377295.2(GNAT2):c.303+365_461+974del
NM_001377295.2(GNAT2):c.303+365_461+974dup
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_001377295.2(GNAT2):c.591-2A>C rs1557918638
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) rs1570562309
NM_001377295.2(GNAT2):c.720+2T>C rs1557918544
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_001377295.2(GNAT2):c.842_843insTCAG (p.His282fs) rs2101121827
NM_001377295.2(GNAT2):c.955del (p.Ile319fs) rs1557917535
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.266G>C (p.Arg89Pro) rs104894910
NM_001378477.3(NYX):c.287T>C (p.Ile96Thr) rs104894911
NM_001378477.3(NYX):c.70_93del (p.Arg24_Ala31del) rs281865194
NM_001378477.3(NYX):c.782T>C (p.Leu261Pro) rs1602180791
NM_001378477.3(NYX):c.90C>A (p.Cys30Ter) rs62637021
NM_001708.2(OPN1SW):c.640T>C (p.Ser214Pro) rs104894032
NM_002075.4(GNB3):c.1017G>A (p.Trp339Ter) rs879253773
NM_002075.4(GNB3):c.170_172del (p.Lys57del) rs879253774
NM_002929.3(GRK1):c.1069+3317_1195-753del
NM_002929.3(GRK1):c.1172C>A (p.Pro391His) rs570621429
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_004727.3(SLC24A1):c.1613_1614del (p.Phe538fs)
NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del) rs1555403793
NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg) rs1555407654
NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs) rs766780281
NM_006204.4(PDE6C):c.1269+1G>A rs1554889905
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006204.4(PDE6C):c.2036+2T>G rs1589704707
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter) rs1589705946
NM_006204.4(PDE6C):c.2283+1G>T rs760343056
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter) rs1589690942
NM_006204.4(PDE6C):c.480+1del
NM_006204.4(PDE6C):c.480G>T (p.Lys160Asn) rs765296989
NM_006204.4(PDE6C):c.497del (p.Asp166fs) rs1554888848
NM_006204.4(PDE6C):c.78del (p.Lys27fs) rs1554888353
NM_006204.4(PDE6C):c.857del (p.Lys286fs) rs1554888978
NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs) rs1553227755
NM_007348.3(ATF6):c.355dup rs869320751
NM_007348.3:c.355_356dupG
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1187+5G>C rs761129859
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.353del (p.Pro118fs) rs797045171
NM_007348.4(ATF6):c.3G>T (p.Met1Ile) rs915211840
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter) rs1571143590
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173
NM_007348.4(ATF6):c.82+5G>T rs797045170
NM_007348.4(ATF6):c.949C>T (p.Arg317Ter) rs146640460
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) rs1554610279
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) rs1554609956
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) rs1554614423
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs) rs1554614024
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) rs1554614022
NM_019098.4(CNGB3):c.852+4013_903+1698dup
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) rs1554612806
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466]
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1055+1G>C rs1823261605
NM_019098.5(CNGB3):c.1056-2A>G rs1385347376
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) rs1586047969
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter)
NM_019098.5(CNGB3):c.1178+5G>T rs1823236444
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter) rs775038513
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter) rs1554610668
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.129+2T>C rs1554619498
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs) rs1554610655
NM_019098.5(CNGB3):c.130-1G>T rs1554619303
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter) rs999921351
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs) rs1554609946
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1579-2A>G rs772725807
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter) rs1554608319
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.1663-2660_1781+5516del
NM_019098.5(CNGB3):c.1781+1G>A rs1375507464
NM_019098.5(CNGB3):c.1781+1G>C rs1375507464
NM_019098.5(CNGB3):c.1781+1G>T rs1375507464
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1782-2A>C rs1554604851
NM_019098.5(CNGB3):c.1782-3723_2103+739del
NM_019098.5(CNGB3):c.1815del (p.Ala606fs) rs1362472371
NM_019098.5(CNGB3):c.190del (p.Glu64fs) rs1554619292
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.212-2527_338+2854del
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2328del (p.Arg777fs) rs1585941011
NM_019098.5(CNGB3):c.2359del (p.Ser787fs) rs1554604525
NM_019098.5(CNGB3):c.257del (p.Pro86fs) rs1554618420
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter) rs1554618417
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs) rs1554618413
NM_019098.5(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter) rs1554618404
NM_019098.5(CNGB3):c.31dup (p.Val11fs) rs1554619509
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile) rs1554619513
NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs) rs2131618938
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs) rs1823849258
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) rs748993388
NM_019098.5(CNGB3):c.494-2A>T rs1554614157
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs) rs1554614131
NM_019098.5(CNGB3):c.595del (p.Glu199fs) rs1823778696
NM_019098.5(CNGB3):c.643+2T>C rs1391492794
NM_019098.5(CNGB3):c.682dup (p.Ala228fs) rs1554614038
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter) rs6471482
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs) rs1554613998
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.819del (p.Arg274fs) rs1586003680
NM_019098.5(CNGB3):c.852+4010_903+1699dup
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter) rs1554612805
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.5(CNGB3):c.904-2A>T rs1554612159
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu) rs1554612145
NM_019098.5(CNGB3):c.95dup (p.His32fs) rs1554619500
NM_019098.5(CNGB3):c.991-3T>G rs773372519
NM_019098.5(CNGB3):c.[442A>G;446_447insT]
NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu) rs104894913
NM_020061.6(OPN1LW):c.269G>A (p.Trp90Ter) rs2067071714
NM_020061.6(OPN1LW):c.607T>C (p.Cys203Arg) rs121434621
NM_020061.6(OPN1LW):c.739C>T (p.Arg247Ter) rs104894912
NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) rs62637027
NM_144499.3(GNAT1):c.113G>A (p.Gly38Asp) rs104893740
NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) rs786205854
NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu) rs786205853
NM_145200.3(CABP4):c.800_801delAG rs786205249
NM_145200.5(CABP4):c.154C>T (p.Arg52Ter) rs745382789
NM_145200.5(CABP4):c.61_62delinsA (p.Pro21fs) rs1590998813
NM_145200.5(CABP4):c.65del (p.Pro22fs) rs775166854
NM_145200.5(CABP4):c.81_82insA (p.Pro28fs) rs786205852
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter) rs2125900955
Single allele

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