ClinVar Miner

List of variants reported as pathogenic for congenital stationary night blindness by OMIM

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
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_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_001252024.2(TRPM1):c.362T>C (p.Leu121Pro) rs191205969 0.00016
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214 0.00011
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_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_145200.5(CABP4):c.646C>T (p.Arg216Ter) rs150115958 0.00004
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_002075.4(GNB3):c.200C>T (p.Ser67Phe) rs140263599 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_198506.5(LRIT3):c.983G>A (p.Cys328Tyr) rs376610215 0.00002
NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter) rs1290420698 0.00001
NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter) rs387907138 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_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) rs1410075831 0.00001
NG_016453.2:g.66830_103274del
NM_000180.4(GUCY2D):c.247C>T (p.Arg83Cys)
NM_000180.4(GUCY2D):c.2731C>T (p.Leu911Phe)
NM_000283.4(PDE6B):c.772C>A (p.His258Asn) rs121918582
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.875C>A (p.Ala292Glu) rs104893789
NM_000843.4(GRM6):c.727dup rs281865186
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.984del (p.Ser329fs) rs770066665
NM_001252024.2(TRPM1):c.1089+3_1089+6del rs772011426
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.482del (p.Gly161fs) rs1226505973
NM_001252024.2(TRPM1):c.97C>T (p.Gln33Ter) rs267607141
NM_001256789.3(CACNA1F):c.1106G>A (p.Gly369Asp) rs122456133
NM_001256789.3(CACNA1F):c.2650C>T (p.Arg884Ter) rs122456135
NM_001256789.3(CACNA1F):c.2872C>T (p.Arg958Ter) rs122456134
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs) rs80359870
NM_001256789.3(CACNA1F):c.4548del (p.Phe1517fs) rs2147895629
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.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.81_82insA (p.Pro28fs) rs786205852
NM_198506.5(LRIT3):c.1538_1539del (p.Ser513fs) rs397509380

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