ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) rs151141842 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu) rs886052676 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter) rs145208539 0.00003
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln) rs373537826 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile) rs774229391 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys) rs61749676 0.00001
NM_000180.4(GUCY2D):c.2132C>T (p.Pro711Leu) rs765463082 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_001077620.3(PRCD):c.74+1G>A rs779066277 0.00001
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter) rs774844858 0.00001
NM_001142800.2(EYS):c.1056+1G>A rs1195522061 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001242957.3(MAK):c.101+1G>A rs1300819259 0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) rs186643840 0.00001
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His) rs137853000 0.00001
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met) rs768140716 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.290+2T>C rs1429797650 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp) rs1476034902 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter) rs2077134911 0.00001
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr) rs747645756 0.00001
NM_152419.3(HGSNAT):c.493+5G>A rs781408761 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter) rs988540767 0.00001
NM_201548.5(CERKL):c.677+547G>C rs1044562973 0.00001
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
NC_000012.11:g.(80760418_80761340)_80765837del
NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG rs111033335
NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del
NC_000015.9:g.(?_43891760)_(43897598_43900060)del
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
NM_000180.4(GUCY2D):c.2984G>A (p.Arg995Gln) rs777075412
NM_000260.4(MYO7A):c.1531G>A (p.Asp511Asn)
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.881_900+51del rs1951451290
NM_000307.5(POU3F4):c.695T>C (p.Ile232Thr) rs397516335
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
NM_000329.3(RPE65):c.12-1G>C rs1348031618
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) rs2100831413
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) rs62653015
NM_000329.3(RPE65):c.246-11A>G rs905365719
NM_000329.3(RPE65):c.3G>A (p.Met1Ile) rs1357241537
NM_000329.3(RPE65):c.442G>A (p.Glu148Lys)
NM_000329.3(RPE65):c.540C>A (p.His180Gln)
NM_000329.3(RPE65):c.644-2A>G
NM_000330.4(RS1):c.184+2T>C
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro) rs2101067700
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) rs1362964563
NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro) rs759537984
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs) rs2127680021
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs) rs758506938
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) rs761760327
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs) rs2149830976
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs) rs2149830970
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg) rs1378663182
NM_001142800.2(EYS):c.7187G>C (p.Cys2396Ser)
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs) rs2149624980
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) rs772549804
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter) rs2105111295
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs) rs1196153507
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
NM_001242957.3(MAK):c.79G>A (p.Gly27Arg) rs754916169
NM_001256317.3(TMPRSS3):c.1153T>C (p.Cys385Arg)
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
NM_001297.5(CNGB1):c.412+1G>T
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) rs771172885
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) rs775332304
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu)
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) rs1311451829
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001384474.1(LOXHD1):c.1519-2A>T
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs) rs974766727
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu) rs121909074
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
NM_004744.5(LRAT):c.470T>C (p.Leu157Pro)
NM_005422.4(TECTA):c.2367+2T>C
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter) rs1208703297
NM_014714.4(IFT140):c.1155+1G>A
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_016239.4(MYO15A):c.3742C>T (p.Arg1248Trp)
NM_016239.4(MYO15A):c.8158G>A (p.Asp2720Asn)
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) rs777069665
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile) rs200244203
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
NM_020461.4(TUBGCP6):c.905+1G>C
NM_021615.5(CHST6):c.1047C>G (p.Cys349Trp)
NM_021615.5(CHST6):c.611C>A (p.Pro204Gln)
NM_138691.3(TMC1):c.1398CAA[1] (p.Asn467del)
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_152443.3(RDH12):c.580dup (p.Tyr194fs) rs2140145502
NM_152443.3(RDH12):c.617C>A (p.Ala206Asp)
NM_152443.3(RDH12):c.667G>T (p.Val223Phe) rs370015375
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_174916.3(UBR1):c.4291T>C (p.Ser1431Pro)
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
NM_194248.3(OTOF):c.1579+1G>A
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter) rs200864338
NM_194248.3(OTOF):c.4228-1G>T
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.5534-2A>G rs1664440809
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
NM_194323.3(OTOF):c.3624del (p.Leu1209fs) rs727505359
NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) rs62636274
NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr) rs2125304648
NM_201548.5(CERKL):c.1366-2A>G
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201548.5(CERKL):c.568del (p.Val190fs)
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) rs769632183
NM_205861.3(DHDDS):c.644del (p.Phe215fs)

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