ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis

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ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_004744.5(LRAT):c.*2670G>T rs17032000 0.13064
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_004744.5(LRAT):c.*1338T>G rs12507608 0.09793
NM_004744.5(LRAT):c.342G>A (p.Glu114=) rs17031981 0.09214
NM_004744.5(LRAT):c.*3618G>A rs17032002 0.02639
NC_000007.14:g.128392274G>A rs183121204 0.00938
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_201253.3(CRB1):c.600A>G (p.Thr200=) rs77713666 0.00254
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) rs62636285 0.00078
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144 0.00050
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00050
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_152443.3(RDH12):c.579C>T (p.Arg193=) rs142117351 0.00037
NM_201253.3(CRB1):c.2976A>G (p.Ala992=) rs200379694 0.00035
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) rs62636263 0.00025
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941 0.00024
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser) rs181890907 0.00020
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095 0.00017
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_152443.3(RDH12):c.384A>G (p.Val128=) rs139881477 0.00015
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135 0.00014
NM_001122769.3(LCA5):c.222A>T (p.Pro74=) rs148386543 0.00014
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537 0.00014
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) rs114052315 0.00011
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) rs62636284 0.00010
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) rs114630940 0.00009
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378 0.00007
NM_000329.3(RPE65):c.1086A>G (p.Gln362=) rs750890448 0.00006
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995 0.00006
NM_201253.3(CRB1):c.1014C>T (p.Ile338=) rs771549675 0.00006
NM_201253.3(CRB1):c.1746A>G (p.Leu582=) rs550119977 0.00006
NM_201253.3(CRB1):c.447C>T (p.His149=) rs576678571 0.00005
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021 0.00004
NM_000329.3(RPE65):c.94+10G>A rs777879312 0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512 0.00004
NM_025114.4(CEP290):c.1905T>C (p.Asn635=) rs778341097 0.00004
NM_025114.4(CEP290):c.2244T>C (p.Ser748=) rs979564116 0.00004
NM_025114.4(CEP290):c.288T>C (p.Asn96=) rs367691481 0.00004
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp) rs775717423 0.00004
NM_001122769.3(LCA5):c.1099-9G>A rs546754454 0.00003
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=) rs376479835 0.00003
NM_001122769.3(LCA5):c.897T>C (p.Ser299=) rs767145624 0.00003
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966 0.00003
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=) rs1481341836 0.00002
NM_152443.3(RDH12):c.621T>C (p.Asn207=) rs747183193 0.00002
NM_201253.3(CRB1):c.1452C>T (p.Thr484=) rs372844443 0.00002
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841 0.00001
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=) rs747328752 0.00001
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=) rs1452561924 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=) rs1409872235 0.00001
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) rs373229699 0.00001
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) rs770919155 0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) rs750442312 0.00001
NM_201253.3(CRB1):c.1977G>A (p.Ser659=) rs1457627160 0.00001
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) rs774597710 0.00001
NM_201253.3(CRB1):c.207C>T (p.Asn69=) rs1302750453 0.00001
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=) rs1192399919 0.00001
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) rs62645757 0.00001
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=) rs374426440 0.00001
NM_201253.3(CRB1):c.763C>T (p.Leu255=) rs1659649148 0.00001
NM_201253.3(CRB1):c.957T>C (p.Ser319=) rs765228022 0.00001
NM_000554.6(CRX):c.*1654dup rs138321430
NM_001164688.2(RD3):c.*1307_*1308insCT rs142577368
NM_002242.4(KCNJ13):c.-74CT[1] rs5839447
NM_003322.6(TULP1):c.*273del rs112061946
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.1789T>C (p.Leu597=) rs2039096949
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=) rs2034700190
NM_152443.3(RDH12):c.39G>A (p.Ser13=) rs146672918
NM_152443.3(RDH12):c.474C>G (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.474C>T (p.Leu158=) rs755916691
NM_152443.3(RDH12):c.552C>T (p.Pro184=) rs1453486367
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213
NM_201253.3(CRB1):c.1428C>G (p.Thr476=) rs62636282
NM_201253.3(CRB1):c.2316A>G (p.Leu772=) rs964544440
NM_201253.3(CRB1):c.4005+4AGC[3] rs550852869

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