List of variants reported as likely benign for X-linked congenital stationary night blindness by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 94

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HGVS	dbSNP	gnomAD frequency
NM_198506.5(LRIT3):c.*1194T>A	rs56285361	0.04634
NM_001004334.4(GPR179):c.2040C>T (p.Asp680=)	rs111770829	0.02523
NM_001378477.3(NYX):c.*414C>T	rs58930096	0.02379
NM_001378477.3(NYX):c.*736G>C	rs141612904	0.01806
NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile)	rs35984752	0.01683
NM_001252024.2(TRPM1):c.*447G>C	rs35415636	0.01490
NM_001004334.4(GPR179):c.654T>G (p.Asp218Glu)	rs74871223	0.01200
NM_001004334.4(GPR179):c.74C>A (p.Ala25Asp)	rs111677298	0.01196
NM_004727.3(SLC24A1):c.*1931C>T	rs75577183	0.00760
NM_004727.3(SLC24A1):c.-164C>T	rs79327611	0.00743
NM_004727.3(SLC24A1):c.-113C>T	rs76680467	0.00702
NM_001004334.4(GPR179):c.3454T>C (p.Ser1152Pro)	rs149252987	0.00689
NM_001004334.4(GPR179):c.2604G>C (p.Glu868Asp)	rs201214109	0.00473
NM_004727.3(SLC24A1):c.*1504C>T	rs116886540	0.00464
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe)	rs138886378	0.00409
NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser)	rs150125328	0.00382
NM_001378477.3(NYX):c.828G>A (p.Glu276=)	rs3810733	0.00379
NM_001252024.2(TRPM1):c.3549G>C (p.Gln1183His)	rs182549235	0.00354
NM_198506.5(LRIT3):c.1442C>T (p.Thr481Met)	rs116570736	0.00352
NM_145200.5(CABP4):c.360C>T (p.Phe120=)	rs192900242	0.00342
NM_001252024.2(TRPM1):c.615G>A (p.Lys205=)	rs141363524	0.00337
NM_004727.3(SLC24A1):c.*37A>C	rs73470085	0.00333
NM_001252024.2(TRPM1):c.2316+12G>A	rs76451613	0.00325
NM_198506.5(LRIT3):c.*1490T>C	rs183244433	0.00317
NM_000539.3(RHO):c.152G>C (p.Gly51Ala)	rs149079952	0.00296
NM_001004334.4(GPR179):c.6336G>A (p.Ala2112=)	rs186214845	0.00296
NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val)	rs79954845	0.00280
NM_001378477.3(NYX):c.*152A>G	rs370733549	0.00277
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val)	rs35398714	0.00276
NM_004727.3(SLC24A1):c.-275G>A	rs115370128	0.00275
NM_001252024.2(TRPM1):c.2991C>T (p.Val997=)	rs115529590	0.00272
NM_001252024.2(TRPM1):c.4349C>T (p.Thr1450Met)	rs113814575	0.00271
NM_001004334.4(GPR179):c.4709C>T (p.Thr1570Met)	rs187512697	0.00241
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp)	rs147966258	0.00228
NM_001004334.4(GPR179):c.5019C>G (p.Thr1673=)	rs182907807	0.00219
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)	rs189931659	0.00194
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)	rs117685425	0.00190
NM_001004334.4(GPR179):c.1029C>T (p.Phe343=)	rs149830172	0.00183
NM_000283.4(PDE6B):c.*474C>G	rs577140751	0.00180
NM_000539.3(RHO):c.480C>A (p.Thr160=)	rs151063543	0.00180
NM_001252024.2(TRPM1):c.1573-10T>C	rs202224865	0.00162
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)	rs200936863	0.00160
NM_145200.5(CABP4):c.455G>A (p.Arg152Gln)	rs143257000	0.00159
NM_000539.3(RHO):c.381C>G (p.Ser127=)	rs146311684	0.00144
NM_001004334.4(GPR179):c.657A>T (p.Gly219=)	rs116896787	0.00141
NM_004727.3(SLC24A1):c.2171C>T (p.Thr724Met)	rs191146484	0.00125
NM_001004334.4(GPR179):c.61G>C (p.Val21Leu)	rs150616884	0.00120
NM_001004334.4(GPR179):c.725G>A (p.Arg242Gln)	rs143624972	0.00120
NM_145200.5(CABP4):c.*1392T>C	rs77807407	0.00111
NM_001252024.2(TRPM1):c.1255C>T (p.His419Tyr)	rs201213623	0.00104
NM_198506.5(LRIT3):c.*1267C>T	rs190337829	0.00101
NM_001378477.3(NYX):c.1183G>A (p.Gly395Ser)	rs189924262	0.00089
NM_145200.5(CABP4):c.652-11G>A	rs117175952	0.00087
NM_001378477.3(NYX):c.1020G>A (p.Glu340=)	rs143486101	0.00079
NM_001378477.3(NYX):c.1212C>T (p.Thr404=)	rs187149252	0.00079
NM_000283.4(PDE6B):c.1401+4C>T	rs113246945	0.00077
NM_000539.3(RHO):c.969C>T (p.Cys323=)	rs142771862	0.00075
NM_001252024.2(TRPM1):c.4502G>A (p.Arg1501His)	rs111649153	0.00053
NM_001252024.2(TRPM1):c.*206A>G	rs185083296	0.00044
NM_000539.3(RHO):c.891C>T (p.Ser297=)	rs142285818	0.00041
NM_198506.5(LRIT3):c.*683G>A	rs564004924	0.00041
NM_145200.5(CABP4):c.*2186C>T	rs191420904	0.00039
NM_001004334.4(GPR179):c.4381G>C (p.Glu1461Gln)	rs201149338	0.00037
NM_198506.5(LRIT3):c.1445A>C (p.Glu482Ala)	rs75722024	0.00034
NM_000283.4(PDE6B):c.2504-1G>C	rs201870319	0.00029
NM_145200.5(CABP4):c.799+15C>T	rs374925466	0.00026
NM_001004334.4(GPR179):c.627C>T (p.Leu209=)	rs143660134	0.00024
NM_001004334.4(GPR179):c.3726G>A (p.Glu1242=)	rs118133878	0.00019
NM_001378477.3(NYX):c.1379G>T (p.Cys460Phe)	rs374968384	0.00019
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)	rs149359860	0.00016
NM_000539.3(RHO):c.624C>T (p.Phe208=)	rs113751838	0.00014
NM_144499.3(GNAT1):c.39G>A (p.Arg13=)	rs201955783	0.00012
NM_000539.3(RHO):c.959C>A (p.Thr320Asn)	rs138831590	0.00011
NM_001004334.4(GPR179):c.3426C>T (p.Ala1142=)	rs371169614	0.00009
NM_000283.4(PDE6B):c.2269-11C>T	rs370169775	0.00008
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)	rs145756948	0.00007
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)	rs781251175	0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)	rs201584824	0.00006
NM_145200.5(CABP4):c.*2716T>C	rs192454438	0.00005
NM_000539.3(RHO):c.1025C>T (p.Thr342Met)	rs183318466	0.00004
NM_001252024.2(TRPM1):c.1285C>A (p.Pro429Thr)	rs374376006	0.00004
NM_001252024.2(TRPM1):c.2631C>G (p.Gly877=)	rs150735353	0.00004
NM_144499.3(GNAT1):c.15C>T (p.Ala5=)	rs376502535	0.00004
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)	rs746211772	0.00003
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)	rs769147926	0.00002
NM_000283.4(PDE6B):c.2352+13C>T	rs374527841	0.00002
NM_001252024.2(TRPM1):c.2316+11C>T	rs369026007	0.00002
NM_000283.4(PDE6B):c.*79A>G	rs753277194	0.00001
NM_000539.3(RHO):c.62G>A (p.Arg21His)	rs552455660	0.00001
NM_000539.3(RHO):c.948C>T (p.Cys316=)	rs754809715
NM_001004334.4(GPR179):c.3819C>G (p.Ala1273=)	rs201777145
NM_001004334.4(GPR179):c.4888G>C (p.Glu1630Gln)	rs149998444
NM_001252024.2(TRPM1):c.4330C>T (p.Arg1444Cys)	rs3784587
NM_198506.5(LRIT3):c.*303G>A	rs556856274

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