ClinVar Miner

List of variants in gene CRX studied for Leber congenital amaurosis 7

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.*1455T>A rs10418834 0.68727
NM_000554.6(CRX):c.*2183T>C rs7259671 0.68119
NM_000554.6(CRX):c.*966G>C rs3933489 0.35856
NM_000554.6(CRX):c.*2106C>T rs12982537 0.35558
NM_000554.6(CRX):c.*401A>C rs3848537 0.32753
NM_000554.6(CRX):c.*400A>T rs3848536 0.32741
NM_000554.6(CRX):c.*1346G>A rs12462534 0.32243
NM_000554.6(CRX):c.*579T>C rs4356586 0.32205
NM_000554.6(CRX):c.*682C>T rs3859431 0.31819
NM_000554.6(CRX):c.*2559G>C rs12463238 0.31236
NM_000554.6(CRX):c.*2704C>T rs12974951 0.31186
NM_000554.6(CRX):c.*2717G>T rs11666203 0.30498
NM_000554.6(CRX):c.*3017C>T rs11666244 0.30306
NM_000554.6(CRX):c.*3301T>C rs11670620 0.30261
NM_000554.6(CRX):c.*3279C>T rs11666316 0.30253
NM_000554.6(CRX):c.*1122G>C rs73576710 0.17992
NM_000554.6(CRX):c.*769G>A rs55835533 0.17955
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_000554.6(CRX):c.*2171C>T rs77875912 0.12286
NM_000554.6(CRX):c.*2380C>T rs62128810 0.12202
NM_000554.6(CRX):c.*1046C>T rs62128808 0.12194
NM_000554.6(CRX):c.*1289G>A rs62128809 0.12192
NM_000554.6(CRX):c.*3285C>G rs62128811 0.12171
NM_000554.6(CRX):c.*679G>A rs112202398 0.12071
NM_000554.6(CRX):c.*3238G>A rs4081725 0.05457
NM_000554.6(CRX):c.*1792C>T rs56226622 0.04477
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.*436G>T rs759530877 0.01473
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_000554.6(CRX):c.*2299C>T rs73038757 0.01254
NM_000554.6(CRX):c.*1220G>A rs58323327 0.01193
NM_000554.6(CRX):c.*3117A>G rs116336713 0.01169
NM_000554.6(CRX):c.*2017C>T rs73038753 0.01017
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.*2375G>A rs188212480 0.00612
NM_000554.6(CRX):c.*1961G>A rs117186518 0.00497
NM_000554.6(CRX):c.*972C>G rs12462416 0.00473
NM_000554.6(CRX):c.*2739G>A rs149039830 0.00452
NM_000554.6(CRX):c.*860C>T rs185098538 0.00359
NM_000554.6(CRX):c.*767G>A rs544037698 0.00339
NM_000554.6(CRX):c.*2137G>A rs181823708 0.00337
NM_000554.6(CRX):c.*2396C>T rs374128749 0.00312
NM_000554.6(CRX):c.*756T>A rs886054553 0.00270
NM_000554.6(CRX):c.*839C>T rs541379131 0.00239
NM_000554.6(CRX):c.*1063C>T rs143939023 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.*595C>T rs111448395 0.00176
NM_000554.6(CRX):c.*2039C>T rs189556251 0.00156
NM_000554.6(CRX):c.*683G>A rs867379668 0.00149
NM_000554.6(CRX):c.*996C>G rs550939154 0.00129
NM_000554.6(CRX):c.*1148G>C rs139073763 0.00126
NM_000554.6(CRX):c.*727C>T rs1360823353 0.00103
NM_000554.6(CRX):c.*19C>T rs79186398 0.00083
NM_000554.6(CRX):c.*2113A>G rs555800382 0.00065
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_000554.6(CRX):c.*1684G>A rs141564522 0.00058
NM_000554.6(CRX):c.*392G>A rs886054550 0.00043
NM_000554.6(CRX):c.*2821G>A rs571610746 0.00041
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000554.6(CRX):c.*117T>A rs574641672 0.00030
NM_000554.6(CRX):c.*118C>A rs543729483 0.00030
NM_000554.6(CRX):c.*527C>T rs371749408 0.00030
NM_000554.6(CRX):c.-46C>T rs755040084 0.00022
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_000554.6(CRX):c.*205G>A rs995250251 0.00018
NM_000554.6(CRX):c.*1759G>T rs886054558 0.00017
NM_000554.6(CRX):c.*2404C>T rs544403161 0.00016
NM_000554.6(CRX):c.*907C>T rs559582292 0.00015
NM_000554.6(CRX):c.*746T>C rs886054552 0.00014
NM_000554.6(CRX):c.*6G>A rs375770558 0.00013
NM_000554.6(CRX):c.*2402G>T rs901623400 0.00012
NM_000554.6(CRX):c.*2602C>T rs562310108 0.00012
NM_000554.6(CRX):c.765C>T (p.Gly255=) rs145913500 0.00012
NM_000554.6(CRX):c.*1671G>A rs550538685 0.00010
NM_000554.6(CRX):c.*809C>G rs574128797 0.00010
NM_000554.6(CRX):c.*2040G>A rs139340702 0.00009
NM_000554.6(CRX):c.*2343G>A rs928747077 0.00008
NM_000554.6(CRX):c.*16T>C rs371964860 0.00006
NM_000554.6(CRX):c.*1917G>A rs557773336 0.00006
NM_000554.6(CRX):c.*2539C>T rs146417527 0.00006
NM_000554.6(CRX):c.-39G>C rs531267959 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_000554.6(CRX):c.*2357G>A rs1053302157 0.00005
NM_000554.6(CRX):c.*498G>A rs1004933827 0.00005
NM_000554.6(CRX):c.606C>T (p.Cys202=) rs764877352 0.00005
NM_000554.6(CRX):c.*2589T>C rs530478127 0.00004
NM_000554.6(CRX):c.*132G>A rs886054548 0.00003
NM_000554.6(CRX):c.*2573C>T rs886054559 0.00003
NM_000554.6(CRX):c.*2889G>A rs886054561 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_000554.6(CRX):c.*2485C>T rs564202140 0.00002
NM_000554.6(CRX):c.*2611G>A rs1329072003 0.00002
NM_000554.6(CRX):c.*366C>T rs560185740 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000554.6(CRX):c.*252C>T rs886054549 0.00001
NM_000554.6(CRX):c.*2544G>A rs1281739542 0.00001
NM_000554.6(CRX):c.*2785C>T rs886054560 0.00001
NM_000554.6(CRX):c.*79C>T rs769100863 0.00001
NM_000554.6(CRX):c.*908G>A rs886054554 0.00001
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544 0.00001
GRCh37/hg19 19q13.33(chr19:48328087-48339179)
NM_000554.6(CRX):c.*110C>A rs1968176550
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*1223A>G rs1968192567
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*1330C>T rs1049141176
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2225A>G rs1968205705
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2580G>A rs1968211334
NM_000554.6(CRX):c.*272T>C rs1286758532
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2935G>T rs1968215891
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*2979T>C rs1968216535
NM_000554.6(CRX):c.*3077C>G rs965939233
NM_000554.6(CRX):c.*3099C>T rs1968218106
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.6(CRX):c.191del (p.Pro64fs) rs1968117526
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) rs1968164288
NM_000554.6(CRX):c.450del (p.Gly151fs) rs1968165665
NM_000554.6(CRX):c.458del (p.Pro153fs) rs1968165787
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) rs1968166379
NM_000554.6(CRX):c.503_504del (p.Glu168fs) rs61748446
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) rs2123743198
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.549del (p.Pro184fs) rs1968167603
NM_000554.6(CRX):c.564del (p.Ala189fs) rs2123743284
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.565del (p.Ala189fs) rs1568626289
NM_000554.6(CRX):c.570del (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) rs373497612
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) rs1193377720
NM_000554.6(CRX):c.650del (p.Gly217fs) rs281865517
NM_000554.6(CRX):c.651C>T (p.Gly217=) rs1968170615
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.816del (p.Thr273fs) rs1968173864
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547

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