ClinVar Miner

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

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ClinVar version:
Total variants: 95
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1720C>T (p.Arg574Cys) rs137853897
NM_000322.4(PRPH2):c.933C>T (p.Ser311=) rs137853904
NM_000328.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687
NM_000350.2(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_000350.2(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.2(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6730-3T>C rs1800717
NM_000440.2(PDE6A):c.1546C>G (p.Leu516Val) rs61733362
NM_000440.2(PDE6A):c.879G>A (p.Pro293=) rs137853899
NM_000717.4(CA4):c.700G>A (p.Val234Ile) rs117704637
NM_000717.4(CA4):c.716G>A (p.Arg239Gln) rs76995634
NM_000843.4(GRM6):c.2420C>T (p.Ala807Val) rs17078874
NM_001034853.1(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_001077182.2(FSCN2):c.49G>A (p.Val17Ile) rs137853900
NM_001139443.1(BEST1):c.1748C>T (p.Ser583Leu) rs137853901
NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) rs10825269
NM_001142763.1(PCDH15):c.1278T>C (p.Thr426=) rs7921598
NM_001145291.1(PDE6B):c.143G>A (p.Arg48Gln) rs113842820
NM_001178007.1(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_001178007.1(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_001297.4(CNGB1):c.1473G>A (p.Pro491=) rs9925973
NM_001297.4(CNGB1):c.1604T>C (p.Val535Ala) rs12927214
NM_001297.4(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809
NM_001297.4(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.4(CNGB1):c.2882C>T (p.Ala961Val) rs112002818
NM_001793.5(CDH3):c.1285G>A (p.Val429Ile) rs34394404
NM_002098.5(GUCA1B):c.253G>A (p.Val85Met) rs137853903
NM_002335.3(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002775.4(HTRA1):c.753C>T (p.Ile251=) rs17624021
NM_002921.3(RGR):c.734C>T (p.Ser245Phe) rs61730895
NM_004183.3(BEST1):c.727G>A (p.Ala243Thr) rs137853905
NM_004744.4(LRAT):c.74T>A (p.Phe25Tyr) rs75368761
NM_005183.3(CACNA1F):c.4161G>T (p.Glu1387Asp) rs137853906
NM_005183.3(CACNA1F):c.5789G>A (p.Arg1930His) rs33910054
NM_006017.2(PROM1):c.1557C>A (p.Tyr519Ter) rs137853907
NM_006017.2(PROM1):c.1768-5C>T rs55708318
NM_006269.1(RP1):c.2255C>T (p.Thr752Met) rs28399531
NM_006269.1(RP1):c.6055G>A (p.Gly2019Ser) rs137853908
NM_006343.2(MERTK):c.2608G>A (p.Val870Ile) rs2230517
NM_006343.2(MERTK):c.60A>T (p.Arg20Ser) rs35898499
NM_006343.2(MERTK):c.878G>A (p.Arg293His) rs34072093
NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835
NM_014336.4(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.4(AIPL1):c.937G>T (p.Ala313Ser) rs115681466
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_019098.4(CNGB3):c.384C>T (p.Ala128=) rs137853910
NM_019098.4(CNGB3):c.80A>G (p.Asn27Ser) rs35807406
NM_020366.3(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911
NM_022124.5(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.5(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.5(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.5(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.5(CDH23):c.8411A>G (p.Lys2804Arg) rs137853912
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_024649.4(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_031885.3(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031935.2(HMCN1):c.13313-4G>A rs41317497
NM_031935.2(HMCN1):c.14158G>A (p.Ala4720Thr) rs6693069
NM_031935.2(HMCN1):c.4586A>G (p.Asn1529Ser) rs41317471
NM_031935.2(HMCN1):c.5482A>G (p.Ile1828Val) rs137853915
NM_031935.2(HMCN1):c.6917G>A (p.Arg2306Gln) rs137853916
NM_031935.2(HMCN1):c.9397A>G (p.Ile3133Val) rs79178888
NM_032119.3(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033
NM_032119.3(ADGRV1):c.16308C>A (p.Thr5436=) rs137853917
NM_032119.3(ADGRV1):c.5525-7C>T rs137853919
NM_032119.3(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819
NM_133497.3(KCNV2):c.-2C>T rs75316505
NM_138554.4(TLR4):c.1196C>T (p.Thr399Ile) rs4986791
NM_138554.4(TLR4):c.842G>A (p.Cys281Tyr) rs137853920
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_172364.4(CACNA2D4):c.2065A>G (p.Ile689Val) rs76224631
NM_172364.4(CACNA2D4):c.2517G>A (p.Ala839=) rs33972365
NM_198310.3(TTC8):c.505-5C>T rs137853922
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602
NM_206933.2(USH2A):c.13297G>T (p.Val4433Leu) rs111033381
NM_206933.2(USH2A):c.14792-2A>G rs137853923
NM_206933.2(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610
NM_206933.2(USH2A):c.1931A>T (p.Asp644Val) rs1805048
NM_206933.2(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.2(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212
NM_206933.2(USH2A):c.6875G>A (p.Arg2292His) rs41277210
NM_206933.2(USH2A):c.7584C>T (p.Thr2528=) rs78250390
NM_206933.2(USH2A):c.9343A>G (p.Thr3115Ala) rs56032526
NM_207352.3(CYP4V2):c.1114G>A (p.Val372Ile) rs61755911

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