List of variants reported as pathogenic for perceptual disorders by Revvity Omics, Revvity

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	rs56264519	0.00105
NM_016366.3(CABP2):c.637+1G>T	rs149712664	0.00102
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)	rs201587138	0.00069
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00064
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	rs121909398	0.00039
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	rs62637014	0.00038
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)	rs141386891	0.00036
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	rs202210819	0.00032
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	rs200691042	0.00030
NM_001142800.2(EYS):c.3443+1G>T	rs373441420	0.00022
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter)	rs144948296	0.00018
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)	rs201823777	0.00012
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)	rs62638214	0.00011
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	rs118203957	0.00009
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	rs121918165	0.00006
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	rs184722374	0.00005
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	rs140287375	0.00005
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)	rs80356595	0.00005
NM_000096.4(CP):c.2670C>G (p.Tyr890Ter)	rs1043139127	0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)	rs777678022	0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	rs80356605	0.00004
NM_001142800.2(EYS):c.7228+1G>A	rs758899480	0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)	rs775267638	0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)	rs267606821	0.00003
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	rs527236067	0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)	rs778114016	0.00002
NM_001384474.1(LOXHD1):c.4212+1G>A	rs889110926	0.00002
NM_015072.5(TTLL5):c.1166C>G (p.Ser389Ter)	rs774889687	0.00002
NM_019098.5(CNGB3):c.1578+1G>A	rs372006750	0.00002
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)	rs386833623	0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	rs878853349	0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs)	rs1316281505	0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	rs267606794	0.00001
NM_001292063.2(OTOG):c.6721del (p.Asp2241fs)	rs1478013002	0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp)	rs749842881	0.00001
NM_001378609.3(OTOGL):c.2391-2A>G	rs374272301	0.00001
NM_016239.4(MYO15A):c.8707C>T (p.Arg2903Ter)	rs768257384	0.00001
NM_016239.4(MYO15A):c.9400C>T (p.Arg3134Ter)	rs1330631412	0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	rs764742792	0.00001
NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)	rs374049779	0.00001
NM_000096.4(CP):c.2879-2A>G	rs1406530488
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	rs773065850
NM_000843.4(GRM6):c.722-1G>T	rs766594761
NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)	rs183261547
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)	rs1769845495
NM_001127453.2(GSDME):c.991-21TTC[2]	rs727505273
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs)	rs387906221
NM_001142800.2(EYS):c.3443+1G>A	rs373441420
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter)	rs1291867456
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	rs758109813
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)	rs1225304963
NM_001145308.5(LRTOMT):c.614_617dup (p.Ser207fs)	rs797044907
NM_001199799.2(ILDR1):c.1180del (p.Glu394fs)
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter)	rs387907017
NM_001252024.2(TRPM1):c.2013C>A (p.Tyr671Ter)	rs1195734631
NM_001292063.2(OTOG):c.1410_1411del (p.Tyr471fs)	rs2134009776
NM_001292063.2(OTOG):c.2119dup (p.Glu707fs)	rs778222536
NM_001292063.2(OTOG):c.4309C>T (p.Gln1437Ter)	rs1853463147
NM_001292063.2(OTOG):c.4380del (p.Thr1461fs)	rs2134088808
NM_001292063.2(OTOG):c.6068del (p.Gly2023fs)	rs1416960576
NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter)	rs2149358455
NM_001349884.2(DRAM2):c.80dup (p.Tyr27Ter)	rs2101086076
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter)	rs2138034575
NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)	rs777587826
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)	rs1555683951
NM_002905.5(RDH5):c.625del (p.Arg209fs)	rs2136142116
NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)	rs1805984836
NM_006269.2(RP1):c.257dup (p.Arg87fs)	rs1314420869
NM_006269.2(RP1):c.3428del (p.Asn1143fs)	rs1806088809
NM_016239.4(MYO15A):c.373_374del (p.Arg125fs)	rs878853239
NM_016239.4(MYO15A):c.5001del (p.Gln1669fs)	rs2142326062
NM_017433.5(MYO3A):c.4587-1G>A	rs1311980539
NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs)	rs2131618938
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)	rs104894113
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)	rs753959716
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	rs386834261
NM_153700.2(STRC):c.3958G>T (p.Glu1320Ter)	rs1410072763
NM_172240.3(POC1B):c.417del (p.Leu140fs)	rs2135738057
NM_194248.3(OTOF):c.1962del (p.Arg656fs)
NM_198506.5(LRIT3):c.696C>A (p.Cys232Ter)	rs2125900955
NM_207352.4(CYP4V2):c.267del (p.Leu89_Leu90insTer)	rs2126582121
NM_207352.4(CYP4V2):c.802-8_810delinsGC	rs207482233

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