ClinVar Miner

List of variants reported for not provided by NEI Ophthalmic Genomics Laboratory, National Institutes of Health

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Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809 0.14066
NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365 0.14052
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_006343.3(MERTK):c.2608G>A (p.Val870Ile) rs2230517 0.08379
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069 0.06856
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_000843.4(GRM6):c.2420C>T (p.Ala807Val) rs17078874 0.06684
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001256789.3(CACNA1F):c.5756G>A (p.Arg1919His) rs33910054 0.06102
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) rs12927214 0.05991
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_138554.5(TLR4):c.1196C>T (p.Thr399Ile) rs4986791 0.04749
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) rs112002818 0.04307
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) rs17624021 0.04155
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_001012720.2(RGR):c.722C>T (p.Ser241Phe) rs61730895 0.03728
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_006343.3(MERTK):c.60A>T (p.Arg20Ser) rs35898499 0.03355
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526 0.03269
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) rs9925973 0.03233
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His) rs41277210 0.02015
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631 0.01557
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_031935.3(HMCN1):c.13313-4G>A rs41317497 0.01218
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_006343.3(MERTK):c.878G>A (p.Arg293His) rs34072093 0.01044
NM_206933.4(USH2A):c.7584C>T (p.Thr2528=) rs78250390 0.00976
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404 0.00905
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888 0.00827
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) rs76995634 0.00739
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) rs59691602 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_207352.4(CYP4V2):c.1114G>A (p.Val372Ile) rs61755911 0.00633
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471 0.00550
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_002098.6(GUCA1B):c.253G>A (p.Val85Met) rs137853903 0.00521
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) rs137853900 0.00240
NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr) rs137853920 0.00232
NM_133497.4(KCNV2):c.-2C>T rs75316505 0.00207
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_004183.4(BEST1):c.1739+189C>T rs137853901 0.00116
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_006269.2(RP1):c.6055G>A (p.Gly2019Ser) rs137853908 0.00021
NM_000440.3(PDE6A):c.879G>A (p.Pro293=) rs137853899 0.00016
NM_022124.6(CDH23):c.8411A>G (p.Lys2804Arg) rs137853912 0.00011
NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln) rs137853916 0.00011
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907 0.00009
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155 0.00003
NM_000180.4(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897 0.00002
NM_019098.5(CNGB3):c.384C>T (p.Ala128=) rs137853910 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_000322.5(PRPH2):c.933C>T (p.Ser311=) rs137853904
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_001256789.3(CACNA1F):c.4128G>T (p.Glu1376Asp) rs137853906
NM_004183.4(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val) rs137853915
NM_032119.4(ADGRV1):c.16308C>A (p.Thr5436=) rs137853917

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