ClinVar Miner

List of variants reported as pathogenic for perceptual disorders by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp) rs62638191 0.00018
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001142800.2(EYS):c.5928-2A>G rs181169439 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) rs140287375 0.00005
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter) rs1239854361 0.00004
NM_006343.3(MERTK):c.2189+1G>T rs371956016 0.00004
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) rs142968179 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter) rs139027297 0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg) rs62636511 0.00002
NM_006269.2(RP1):c.1986del (p.Lys663fs) rs754246929 0.00002
NM_000260.4(MYO7A):c.4838del (p.Asp1613fs) rs1199012623 0.00001
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg) rs1472566324 0.00001
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu) rs1553187939 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_006269.2(RP1):c.615+1G>A rs886210482 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000260.4(MYO7A):c.1938del (p.Phe647fs)
NM_000260.4(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000266.4(NDP):c.384C>G (p.Cys128Trp)
NM_000283.4(PDE6B):c.427del (p.Ala143fs)
NM_000329.3(RPE65):c.361del (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.550G>T (p.Glu184Ter)
NM_000330.4(RS1):c.461A>G (p.Gln154Arg) rs2147191205
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.3(ABCA4):c.3965del (p.Pro1322fs)
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter) rs1282472315
NM_000350.3(ABCA4):c.4849-2A>G rs1659893796
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.699_768+341del rs1662191792
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) rs104893791
NM_000843.4(GRM6):c.1501-1G>T
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001042432.2(CLN3):c.461-280_677+382del rs1555468634
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001142800.2(EYS):c.5918dup (p.Leu1974fs)
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2:c.2024-5718_2260-10064del
NM_001201543.2(FAM161A):c.1440del (p.Glu481fs)
NM_001201543.2(FAM161A):c.690del (p.Glu231fs)
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001278293.3(ARL6):c.387_394del (p.Asn130fs)
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) rs774264204
NM_001297.5(CNGB1):c.2804_2817del (p.Glu935fs)
NM_001378477.3(NYX):c.22+5G>T
NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)
NM_001563.4(IMPG1):c.1824+1G>A rs770887047
NM_002929.3(GRK1):c.142_145del (p.Glu48fs) rs748680704
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_003043.6(SLC6A6):c.746C>T (p.Thr249Ile)
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) rs1799652893
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1649C>G (p.Ser550Ter)
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.784+1G>A rs745704627
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006204.4(PDE6C):c.2361_2363dup (p.Tyr788Ter)
NM_006204.4(PDE6C):c.633G>A (p.Glu211=)
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter) rs561075447
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.4743dup (p.Cys1582fs) rs886041040
NM_006269.2(RP1):c.711C>G (p.Tyr237Ter)
NM_006343.3(MERTK):c.1237del (p.Gln413fs)
NM_006343.3(MERTK):c.2194C>T (p.Arg732Ter)
NM_006343.3(MERTK):c.444dup (p.Pro149fs)
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006493.4(CLN5):c.288del (p.Leu97fs)
NM_006642.5(SDCCAG8):c.1817_1818dup (p.Ala607Ter)
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)
NM_014053.4(FLVCR1):c.1198C>T (p.Gln400Ter) rs1315527384
NM_015072.5(TTLL5):c.1586_1589del (p.Glu529fs) rs587777469
NM_015072.5(TTLL5):c.3744dup (p.Ser1249fs) rs753057666
NM_015072.5(TTLL5):c.741-1G>A rs1887576038
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) rs567890014
NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer)
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) rs387907294
NM_032119.4(ADGRV1):c.10910del (p.Asn3637fs)
NM_130837.3(OPA1):c.796_799del (p.Asp266fs)
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp) rs761167763
NM_201253.3(CRB1):c.266del (p.Pro89fs)
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) rs281865174
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201548.5(CERKL):c.1389_1392del (p.Tyr464fs) rs1026405158
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021

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