ClinVar Miner

List of variants reported as pathogenic for congenital stationary night blindness

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 130
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys) rs62638625 0.00037
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_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
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_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 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_000283.4(PDE6B):c.1798G>A (p.Asp600Asn) rs764605140 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_002929.3(GRK1):c.1139T>A (p.Val380Asp) rs777094000 0.00004
NM_004727.3(SLC24A1):c.1963C>T (p.Arg655Ter) rs201452975 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_002075.4(GNB3):c.200C>T (p.Ser67Phe) rs140263599 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_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_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_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) rs1410075831 0.00001
NC_000015.10:g.(?_31001061)_(31161273_?)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_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_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_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_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_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

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.