ClinVar Miner

List of variants reported as benign for X-linked congenital stationary night blindness

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_000843.4(GRM6):c.1308T>C (p.Thr436=) rs4701014 0.98353
NM_001252024.2(TRPM1):c.4-36G>A rs4779817 0.85121
NM_001252024.2(TRPM1):c.68T>C (p.Met23Thr) rs4779816 0.85041
NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn) rs2241493 0.79957
NM_001252024.2(TRPM1):c.2406T>C (p.Asn802=) rs2288242 0.78132
NM_000843.4(GRM6):c.1131C>T (p.Asp377=) rs2071246 0.74455
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_000843.4(GRM6):c.1500+23A>G rs2256966 0.57932
NM_000843.4(GRM6):c.176A>C (p.Gln59Pro) rs2645329 0.57334
NM_000843.4(GRM6):c.1392A>G (p.Gly464=) rs11746675 0.57251
NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) rs4698797 0.55919
NM_144499.3(GNAT1):c.*1427A>G rs34877766 0.55827
NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) rs764205 0.55477
NM_001252024.2(TRPM1):c.*571G>A rs11070718 0.53803
NM_145200.5(CABP4):c.541+7C>G rs1638564 0.53792
NM_000843.4(GRM6):c.1353T>C (p.Asn451=) rs2067011 0.50613
NM_001378477.3(NYX):c.*509G>C rs3021319 0.50557
NM_000843.4(GRM6):c.1227C>T (p.Tyr409=) rs2645339 0.49941
NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=) rs1035705 0.47013
NM_144499.3(GNAT1):c.*516T>G rs11919418 0.41929
NM_000539.3(RHO):c.-26A>G rs7984 0.38071
NM_000539.3(RHO):c.*912A>G rs2855558 0.37600
NM_145200.5(CABP4):c.*876G>A rs11601325 0.33447
NM_144499.3(GNAT1):c.*618C>T rs13064381 0.31869
NM_001378477.3(NYX):c.-57+60A>G rs3013121 0.28288
NM_001378477.3(NYX):c.-57+95T>C rs3013122 0.28228
NM_001004334.4(GPR179):c.909= (p.Val303=) rs9894059 0.24635
NM_001252024.2(TRPM1):c.2373T>C (p.Tyr791=) rs12913672 0.24521
NM_004727.3(SLC24A1):c.109A>T (p.Thr37Ser) rs3743171 0.19289
NM_000843.4(GRM6):c.2196G>A (p.Thr732=) rs2071247 0.18181
NM_001252024.2(TRPM1):c.*251A>G rs17227989 0.16454
NM_001004334.4(GPR179):c.3448A>G (p.Lys1150Glu) rs55727040 0.16088
NM_145200.5(CABP4):c.*1697A>G rs2514262 0.14831
NM_000539.3(RHO):c.*232A>G rs2410 0.12892
NM_145200.5(CABP4):c.*119T>G rs1790736 0.12627
NM_145200.5(CABP4):c.*1857T>C rs11227798 0.12407
NM_001252024.2(TRPM1):c.2541C>T (p.Asn847=) rs12911350 0.12346
NM_000539.3(RHO):c.*925T>C rs60645924 0.11065
NM_000539.3(RHO):c.-51G>A rs2269736 0.08270
NM_000539.3(RHO):c.696+4C>T rs56340615 0.07633
NM_004727.3(SLC24A1):c.*1618A>G rs62014380 0.06922
NM_004727.3(SLC24A1):c.*732T>G rs62014379 0.06512
NM_004727.3(SLC24A1):c.937T>G (p.Leu313Val) rs35571449 0.06350
NM_001252024.2(TRPM1):c.4560T>A (p.His1520Gln) rs12898290 0.06327
NM_001252024.2(TRPM1):c.4189G>T (p.Glu1397Ter) rs3784589 0.06326
NM_145200.5(CABP4):c.*2327G>A rs11227799 0.06318
NM_145200.5(CABP4):c.800-5C>T rs72934713 0.05627
NM_001004334.4(GPR179):c.7080T>G (p.Thr2360=) rs58740367 0.05624
NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu) rs4399578 0.05465
NM_001252024.2(TRPM1):c.4249G>A (p.Val1417Ile) rs3784588 0.05322
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_001004334.4(GPR179):c.*362G>A rs4794777 0.05121
NM_001004334.4(GPR179):c.1478= (p.His493=) rs4550493 0.04915
NM_001252024.2(TRPM1):c.3752A>C (p.Asn1251Thr) rs17227996 0.04213
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_001004334.4(GPR179):c.2650C>T (p.Arg884Trp) rs72832277 0.04068
NM_004727.3(SLC24A1):c.*718C>A rs12148277 0.03721
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_004727.3(SLC24A1):c.*766G>A rs140766380 0.03114
NM_001252024.2(TRPM1):c.4201C>A (p.Pro1401Thr) rs61734298 0.02860
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) rs74010762 0.02659
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_001252024.2(TRPM1):c.1879G>A (p.Val627Met) rs17815774 0.02393
NM_001252024.2(TRPM1):c.1572+14A>G rs17228080 0.02373
NM_000539.3(RHO):c.*313C>T rs55941599 0.02366
NM_001004334.4(GPR179):c.5930C>A (p.Pro1977His) rs62073368 0.02067
NM_198506.5(LRIT3):c.*962A>G rs10011256 0.01835
NM_144499.3(GNAT1):c.*1397G>T rs74718377 0.01823
NM_001004334.4(GPR179):c.5385C>T (p.Gly1795=) rs72832276 0.01811
NM_145200.5(CABP4):c.*2195G>A rs11822066 0.01710
NM_145200.5(CABP4):c.*1435G>A rs75914794 0.01709
NM_144499.3(GNAT1):c.117G>A (p.Glu39=) rs34797487 0.01515
NM_001378477.3(NYX):c.207G>A (p.Leu69=) rs12013709 0.01487
NM_144499.3(GNAT1):c.*1174G>A rs114828382 0.01485
NM_001004334.4(GPR179):c.*613G>C rs59996277 0.01442
NM_001004334.4(GPR179):c.*523G>A rs143241101 0.01311
NM_001004334.4(GPR179):c.3881G>A (p.Arg1294Gln) rs74742940 0.01287
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=) rs61733857 0.01240
NM_001004334.4(GPR179):c.3680A>G (p.Lys1227Arg) rs138451517 0.01226
NM_001004334.4(GPR179):c.1595G>A (p.Arg532His) rs59208852 0.01203
NM_000539.3(RHO):c.*1601C>T rs187923166 0.01177
NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) rs34363823 0.01175
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_001004334.4(GPR179):c.3569G>A (p.Arg1190Gln) rs80172972 0.01140
NM_000539.3(RHO):c.*488T>C rs78163008 0.01127
NM_001004334.4(GPR179):c.921T>A (p.Ser307Arg) rs137934209 0.01106
NM_004727.3(SLC24A1):c.*1199T>C rs114414983 0.01090
NM_000539.3(RHO):c.*33C>T rs113310993 0.01076
NM_001004334.4(GPR179):c.2924C>A (p.Ala975Asp) rs111520301 0.01045
NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr) rs78470373 0.01044
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_001252024.2(TRPM1):c.1644C>T (p.Tyr548=) rs34647453 0.00956
NM_004727.3(SLC24A1):c.1488C>T (p.Gly496=) rs35366838 0.00946
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_000283.4(PDE6B):c.*414C>T rs111404897 0.00925
NM_145200.5(CABP4):c.747C>T (p.Asp249=) rs34573687 0.00924
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_001004334.4(GPR179):c.880C>T (p.Leu294=) rs141320532 0.00905
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg) rs79423227 0.00871
NM_001252024.2(TRPM1):c.4744G>A (p.Val1582Met) rs61734295 0.00844
NM_001004334.4(GPR179):c.2988G>A (p.Glu996=) rs192591837 0.00838
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_001004334.4(GPR179):c.3979G>A (p.Asp1327Asn) rs112195635 0.00812
NM_001252024.2(TRPM1):c.1261C>A (p.Pro421Thr) rs141540242 0.00803
NM_145200.5(CABP4):c.*1859C>T rs7936733 0.00732
NM_198506.5(LRIT3):c.*232C>G rs116151046 0.00720
NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly) rs34169326 0.00706
NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly) rs142249570 0.00691
NM_001252024.2(TRPM1):c.3980G>A (p.Arg1327His) rs13380059 0.00682
NM_001252024.2(TRPM1):c.*723T>C rs143353770 0.00654
NM_001004334.4(GPR179):c.645G>A (p.Pro215=) rs75688084 0.00639
NM_145200.5(CABP4):c.*963C>T rs76060170 0.00637
NM_004727.3(SLC24A1):c.*778C>T rs150126578 0.00629
NM_001004334.4(GPR179):c.508G>C (p.Gly170Arg) rs77937007 0.00605
NM_001004334.4(GPR179):c.4141T>C (p.Cys1381Arg) rs4398144 0.00592
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_001252024.2(TRPM1):c.4007C>T (p.Thr1336Met) rs111421899 0.00551
NM_001252024.2(TRPM1):c.1764+9C>G rs147073624 0.00537
NM_000843.4(GRM6):c.1533C>T (p.His511=) rs61733043 0.00512
NM_001252024.2(TRPM1):c.3938C>T (p.Thr1313Met) rs114875010 0.00511
NM_145200.5(CABP4):c.*2679A>G rs77828276 0.00503
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_001004334.4(GPR179):c.628G>A (p.Gly210Ser) rs148060036 0.00463
NM_001252024.2(TRPM1):c.3444C>T (p.Gly1148=) rs79581534 0.00452
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) rs141813304 0.00436
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_145200.5(CABP4):c.53G>A (p.Arg18His) rs140245752 0.00399
NM_000283.4(PDE6B):c.1108-9C>T rs200970775 0.00373
NM_144499.3(GNAT1):c.675C>T (p.Ala225=) rs4688684 0.00368
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_145200.5(CABP4):c.*120T>A rs372107215 0.00360
NM_000539.3(RHO):c.*1278G>T rs113312341 0.00359
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_144499.3(GNAT1):c.*410A>G rs557823715 0.00322
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_001252024.2(TRPM1):c.1342G>A (p.Gly448Arg) rs73372436 0.00257
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_198506.5(LRIT3):c.158C>T (p.Thr53Met) rs181200721 0.00233
NM_198506.5(LRIT3):c.*389G>A rs139529995 0.00228
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_144499.3(GNAT1):c.*1187G>A rs192468377 0.00180
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_000539.3(RHO):c.*205C>T rs202215179 0.00170
NM_144499.3(GNAT1):c.939G>A (p.Lys313=) rs201551360 0.00163
NM_000539.3(RHO):c.*467A>G rs148165044 0.00161
NM_144499.3(GNAT1):c.411G>A (p.Glu137=) rs147238978 0.00140
NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) rs184650144 0.00111
NM_004727.3(SLC24A1):c.-182T>C rs190488986 0.00110
NM_001004334.4(GPR179):c.6824T>C (p.Leu2275Pro) rs148601715 0.00108
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_001004334.4(GPR179):c.1477C>T (p.His493Tyr) rs114716738 0.00081
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_144499.3(GNAT1):c.*2329A>G rs187096133 0.00079
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=) rs142802752 0.00073
NM_000283.4(PDE6B):c.852+12G>A rs201676629 0.00070
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) rs148190219 0.00061
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu) rs138682290 0.00056
NM_000539.3(RHO):c.*1200T>C rs538744995 0.00051
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_198506.5(LRIT3):c.1317G>A (p.Lys439=) rs189069580 0.00044
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_001004334.4(GPR179):c.2022C>T (p.Asp674=) rs79623844 0.00041
NM_144499.3(GNAT1):c.876C>T (p.Tyr292=) rs142612552 0.00039
NM_144499.3(GNAT1):c.*1990G>A rs184223436 0.00035
NM_000283.4(PDE6B):c.2352+3G>A rs111504036 0.00033
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_000283.4(PDE6B):c.966C>T (p.His322=) rs143711050 0.00032
NM_000539.3(RHO):c.519C>T (p.Ala173=) rs149722668 0.00029
NM_001252024.2(TRPM1):c.729C>T (p.Gly243=) rs188427342 0.00029
NM_144499.3(GNAT1):c.241G>A (p.Val81Ile) rs201849628 0.00026
NM_001004334.4(GPR179):c.6798T>G (p.Phe2266Leu) rs141146547 0.00025
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) rs752846577 0.00019
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys) rs143908642 0.00016
NM_001252024.2(TRPM1):c.4812G>C (p.Val1604=) rs143866050 0.00016
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn) rs138423108 0.00013
NM_004727.3(SLC24A1):c.1374C>T (p.His458=) rs370043190 0.00013
NM_001378477.3(NYX):c.1238C>G (p.Ser413Cys) rs776029387 0.00012
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro) rs199521106 0.00011
NM_144499.3(GNAT1):c.38G>A (p.Arg13Lys) rs201006405 0.00011
NM_144499.3(GNAT1):c.83G>A (p.Arg28Gln) rs149936603 0.00011
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000539.3(RHO):c.361+10G>A rs372128112 0.00010
NM_000539.3(RHO):c.744G>A (p.Lys248=) rs141185480 0.00010
NM_000283.4(PDE6B):c.2193+5G>A rs576895229 0.00009
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000283.3(PDE6B):c.*764G>A rs575639886 0.00006
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=) rs750323428 0.00006
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr) rs149880099 0.00006
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu) rs189172362 0.00006
NM_000283.4(PDE6B):c.699G>A (p.Thr233=) rs148264146 0.00006
NM_004727.3(SLC24A1):c.2884-15G>A rs371022531 0.00006
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) rs200079698 0.00004
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_144499.3(GNAT1):c.294C>T (p.Asp98=) rs374784713 0.00003
NM_144499.3(GNAT1):c.904C>T (p.Gln302Ter) rs374913800 0.00003
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn) rs539768252 0.00002
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met) rs369980987 0.00002
NM_000283.4(PDE6B):c.*21C>T rs371005251 0.00001
NM_000283.4(PDE6B):c.1590C>T (p.Val530=) rs202244041 0.00001
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp) rs768939011 0.00001
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr) rs779474710 0.00001
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001
NM_144499.3(GNAT1):c.*183C>G rs556104512 0.00001
NM_000283.4(PDE6B):c.2353-13C>T rs369466418
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys) rs537263212
NM_000539.3(RHO):c.*1099G>A rs3733148
NM_000539.3(RHO):c.*43C>A rs2071093
NM_000539.3(RHO):c.*959A>G rs368910470
NM_001004334.4(GPR179):c.3699= (p.Leu1233=) rs35803744
NM_001252024.2(TRPM1):c.*549T>C rs112061822
NM_001252024.2(TRPM1):c.2149G>A (p.Ala717Thr) rs138944426
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001252024.2(TRPM1):c.3907G>A (p.Glu1303Lys) rs117855013
NM_001252024.2(TRPM1):c.4330C>G (p.Arg1444Gly) rs3784587
NM_001252024.2(TRPM1):c.4452G>A (p.Thr1484=) rs16956430
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_144499.3(GNAT1):c.-2C>G rs151191490
NM_145200.5(CABP4):c.192C>T (p.Pro64=) rs1790765
NM_145200.5(CABP4):c.541+8A>C rs1638565

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