ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP
NM_000329.2(RPE65):c.*531A>G rs3118418
NM_000329.2(RPE65):c.*611G>A rs2182315
NM_000329.2(RPE65):c.*915C>G rs3118416
NM_000329.2(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000554.4(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.5(CRX):c.*1046C>T rs62128808
NM_000554.5(CRX):c.*1063C>T rs143939023
NM_000554.5(CRX):c.*1148G>C rs139073763
NM_000554.5(CRX):c.*1220G>A rs58323327
NM_000554.5(CRX):c.*1289G>A rs62128809
NM_000554.5(CRX):c.*1654dupA rs138321430
NM_000554.5(CRX):c.*1671G>A rs550538685
NM_000554.5(CRX):c.*1792C>T rs56226622
NM_000554.5(CRX):c.*1917G>A rs557773336
NM_000554.5(CRX):c.*1961G>A rs117186518
NM_000554.5(CRX):c.*19C>T rs79186398
NM_000554.5(CRX):c.*2017C>T rs73038753
NM_000554.5(CRX):c.*2039C>T rs189556251
NM_000554.5(CRX):c.*2137G>A rs181823708
NM_000554.5(CRX):c.*2155G>A rs113560570
NM_000554.5(CRX):c.*2299C>T rs73038757
NM_000554.5(CRX):c.*2375G>A rs188212480
NM_000554.5(CRX):c.*2380C>T rs62128810
NM_000554.5(CRX):c.*2396C>T rs374128749
NM_000554.5(CRX):c.*2539C>T rs146417527
NM_000554.5(CRX):c.*2602C>T rs562310108
NM_000554.5(CRX):c.*2739G>A rs149039830
NM_000554.5(CRX):c.*2758C>A rs117717088
NM_000554.5(CRX):c.*2880T>C rs142202442
NM_000554.5(CRX):c.*3285C>G rs62128811
NM_000554.5(CRX):c.*527C>T rs371749408
NM_000554.5(CRX):c.*595C>T rs111448395
NM_000554.5(CRX):c.*679G>A rs112202398
NM_000554.5(CRX):c.*767G>A rs544037698
NM_000554.5(CRX):c.*860C>T rs185098538
NM_000554.5(CRX):c.*972C>G rs12462416
NM_000554.5(CRX):c.*996C>G rs550939154
NM_000554.5(CRX):c.-39G>C rs531267959
NM_000554.5(CRX):c.101-12A>G rs73941294
NM_000554.5(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.5(CRX):c.253-15G>A rs145805694
NM_000554.5(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000554.5(CRX):c.551C>T (p.Pro184Leu) rs147558800
NM_000883.3(IMPDH1):c.*228G>A rs72624976
NM_000883.3(IMPDH1):c.*597G>A rs1803821
NM_000883.3(IMPDH1):c.*634C>T rs1803822
NM_000883.3(IMPDH1):c.*733C>T rs183121204
NM_000883.3(IMPDH1):c.-69T>G rs72624936
NM_000883.3(IMPDH1):c.1338C>T (p.Ile446=) rs199623010
NM_000883.3(IMPDH1):c.1405+9A>G rs11562030
NM_000883.3(IMPDH1):c.1575G>A (p.Ala525=) rs2228075
NM_000883.3(IMPDH1):c.987G>C (p.Leu329=) rs2288550
NM_002242.4(KCNJ13):c.*135A>G rs8192539
NM_002242.4(KCNJ13):c.*1839A>G rs34063802
NM_002242.4(KCNJ13):c.-72_-71delCT rs5839447
NM_002242.4(KCNJ13):c.524C>T (p.Thr175Ile) rs1801251
NM_003322.4(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003322.5(TULP1):c.*268C>A rs114707578
NM_003322.5(TULP1):c.*273delC rs112061946
NM_004744.4(LRAT):c.*1338T>G rs12507608
NM_004744.4(LRAT):c.*1867C>T rs78441257
NM_004744.4(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT rs372786858
NM_004744.4(LRAT):c.*2670G>T rs17032000
NM_004744.4(LRAT):c.*3618G>A rs17032002
NM_004744.4(LRAT):c.*817A>G rs78274322
NM_004744.4(LRAT):c.342G>A (p.Glu114=) rs17031981
NM_014336.4(AIPL1):c.*1009A>G rs4577135
NM_014336.4(AIPL1):c.*1018G>A rs2871287
NM_014336.4(AIPL1):c.*1178C>T rs149460055
NM_014336.4(AIPL1):c.*1202C>T rs907937
NM_014336.4(AIPL1):c.*1229C>T rs907938
NM_014336.4(AIPL1):c.*1237C>T rs139074266
NM_014336.4(AIPL1):c.*1289G>A rs11869118
NM_014336.4(AIPL1):c.*134G>T rs2090068
NM_014336.4(AIPL1):c.*1391C>T rs907939
NM_014336.4(AIPL1):c.*151_*152del rs77115868
NM_014336.4(AIPL1):c.*1568G>A rs11869066
NM_014336.4(AIPL1):c.*1658T>C rs78526307
NM_014336.4(AIPL1):c.*188G>A rs1317185
NM_014336.4(AIPL1):c.*221G>A rs112307858
NM_014336.4(AIPL1):c.*33A>C rs140472462
NM_014336.4(AIPL1):c.*390G>T rs182504714
NM_014336.4(AIPL1):c.*606G>A rs10852881
NM_014336.4(AIPL1):c.*753G>A rs62060993
NM_014336.4(AIPL1):c.*824G>C rs145706166
NM_014336.4(AIPL1):c.-106C>A rs7211442
NM_014336.4(AIPL1):c.-107C>G rs149098937
NM_014336.4(AIPL1):c.111C>T (p.Phe37=) rs11650007
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.4(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.4(AIPL1):c.277-10A>C rs12453262
NM_014336.4(AIPL1):c.277-14G>A rs117749485
NM_014336.4(AIPL1):c.286G>A (p.Val96Ile) rs62619924
NM_014336.4(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.4(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.4(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014336.4(AIPL1):c.642+14G>A rs188779461
NM_014336.4(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.4(AIPL1):c.765T>C (p.Asp255=) rs62637018
NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014336.4(AIPL1):c.97-9G>A rs140124986
NM_018418.4(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784
NM_018418.4(SPATA7):c.191-14C>A rs60770744
NM_018418.4(SPATA7):c.220G>A (p.Val74Met) rs3179969
NM_018418.4(SPATA7):c.284A>G (p.Gln95Arg) rs61747004
NM_018418.4(SPATA7):c.357T>G (p.Phe119Leu) rs35137272
NM_018418.4(SPATA7):c.494G>A (p.Ser165Asn) rs17124662
NM_018418.4(SPATA7):c.4G>A (p.Asp2Asn) rs4904448
NM_018418.4(SPATA7):c.546T>C (p.Ser182=) rs17124665
NM_018418.4(SPATA7):c.971G>A (p.Gly324Glu) rs17124677
NM_020366.3(RPGRIP1):c.*10T>C rs80191010
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965
NM_020366.3(RPGRIP1):c.2215+7G>A rs7157052
NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904
NM_020366.3(RPGRIP1):c.3340-15C>T rs28664100
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) rs17792599
NM_025114.3(CEP290):c.*19_*22delGTTT rs142288119
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_181714.3(LCA5):c.*1528G>A rs41269343
NM_181714.3(LCA5):c.*223A>G rs2292109
NM_181714.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845
NM_181714.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461
NM_183059.2(RD3):c.*1307_*1308insCT rs142577368
NM_183059.2(RD3):c.*1331G>A rs11119747
NM_183059.2(RD3):c.*1343G>C rs11119746
NM_183059.2(RD3):c.*1649T>C rs12076715
NM_183059.2(RD3):c.*193G>C rs11119748
NM_183059.2(RD3):c.*368A>T rs1947058
NM_183059.2(RD3):c.*471C>T rs34433079
NM_183059.2(RD3):c.-1123T>C rs10863899
NM_201253.2(CRB1):c.*393T>C rs147966959
NM_201253.2(CRB1):c.-204C>T rs544047392
NM_201253.2(CRB1):c.1172-12A>G rs146175509
NM_201253.2(CRB1):c.1428C>T (p.Thr476=) rs62636282
NM_201253.2(CRB1):c.1533C>T (p.Ala511=) rs142224492
NM_201253.2(CRB1):c.1647T>C (p.Asn549=) rs62636283
NM_201253.2(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_201253.2(CRB1):c.2230C>A (p.Arg744=) rs150412614
NM_201253.2(CRB1):c.2306G>A (p.Arg769His) rs62636287
NM_201253.2(CRB1):c.2307C>T (p.Arg769=) rs151104285
NM_201253.2(CRB1):c.2677-8C>T rs73071678
NM_201253.2(CRB1):c.2714G>A (p.Arg905Gln) rs114052315
NM_201253.2(CRB1):c.2715G>A (p.Arg905=) rs534108312
NM_201253.2(CRB1):c.2843-13C>T rs199808176
NM_201253.2(CRB1):c.3228T>C (p.Asp1076=) rs780576185
NM_201253.2(CRB1):c.3397G>A (p.Val1133Met) rs116246250
NM_201253.2(CRB1):c.3695A>G (p.His1232Arg) rs142090517
NM_201253.2(CRB1):c.3750-3T>C rs187937543
NM_201253.2(CRB1):c.3878+15A>T rs200217112
NM_201253.2(CRB1):c.3992G>A (p.Arg1331His) rs62636285
NM_201253.2(CRB1):c.4005+7_4005+9dupAGC rs550852869
NM_201253.2(CRB1):c.484G>A (p.Val162Met) rs137853138
NM_201253.2(CRB1):c.600A>G (p.Thr200=) rs77713666
NM_201253.2(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201253.2(CRB1):c.664G>A (p.Glu222Lys) rs114846212
NM_201253.2(CRB1):c.866C>T (p.Thr289Met) rs62636263
NM_201253.2(CRB1):c.99G>T (p.Arg33Ser) rs59691602

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