ClinVar Miner

List of variants in gene CRX studied for Leber congenital amaurosis

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
CRX, 1-BP DEL, GLY217
CRX, 2-BP DEL, GLU168
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.*1122G>C rs73576710
NM_000554.5(CRX):c.*1148G>C rs139073763
NM_000554.5(CRX):c.*1149G>A rs886054555
NM_000554.5(CRX):c.*118C>A rs543729483
NM_000554.5(CRX):c.*1220G>A rs58323327
NM_000554.5(CRX):c.*1289G>A rs62128809
NM_000554.5(CRX):c.*1309T>C rs886054556
NM_000554.5(CRX):c.*132G>A rs886054548
NM_000554.5(CRX):c.*1346G>A rs12462534
NM_000554.5(CRX):c.*1455T>A rs10418834
NM_000554.5(CRX):c.*1621_*1623dupTTT rs59559801
NM_000554.5(CRX):c.*1654dupA rs138321430
NM_000554.5(CRX):c.*1671G>A rs550538685
NM_000554.5(CRX):c.*1759G>T rs886054558
NM_000554.5(CRX):c.*1792C>T rs56226622
NM_000554.5(CRX):c.*1900delA rs796977583
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.*2106C>T rs12982537
NM_000554.5(CRX):c.*2113A>G rs555800382
NM_000554.5(CRX):c.*2137G>A rs181823708
NM_000554.5(CRX):c.*2155G>A rs113560570
NM_000554.5(CRX):c.*2171C>T rs77875912
NM_000554.5(CRX):c.*2183T>C rs7259671
NM_000554.5(CRX):c.*2299C>T rs73038757
NM_000554.5(CRX):c.*234G>A rs754333326
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.*2485C>T rs564202140
NM_000554.5(CRX):c.*252C>T rs886054549
NM_000554.5(CRX):c.*2539C>T rs146417527
NM_000554.5(CRX):c.*2559G>C rs12463238
NM_000554.5(CRX):c.*2573C>T rs886054559
NM_000554.5(CRX):c.*2602C>T rs562310108
NM_000554.5(CRX):c.*2704C>T rs12974951
NM_000554.5(CRX):c.*2717G>T rs11666203
NM_000554.5(CRX):c.*2739G>A rs149039830
NM_000554.5(CRX):c.*2758C>A rs117717088
NM_000554.5(CRX):c.*2785C>T rs886054560
NM_000554.5(CRX):c.*2821G>A rs571610746
NM_000554.5(CRX):c.*2850G>A rs769789306
NM_000554.5(CRX):c.*2880T>C rs142202442
NM_000554.5(CRX):c.*2889G>A rs886054561
NM_000554.5(CRX):c.*2937T>C rs7248427
NM_000554.5(CRX):c.*2952G>A rs886054562
NM_000554.5(CRX):c.*3017C>T rs11666244
NM_000554.5(CRX):c.*314_*316delAAG rs398059782
NM_000554.5(CRX):c.*3238G>A rs4081725
NM_000554.5(CRX):c.*3279C>T rs11666316
NM_000554.5(CRX):c.*3285C>G rs62128811
NM_000554.5(CRX):c.*3301T>C rs11670620
NM_000554.5(CRX):c.*392G>A rs886054550
NM_000554.5(CRX):c.*400A>T rs3848536
NM_000554.5(CRX):c.*401A>C rs3848537
NM_000554.5(CRX):c.*435delT rs886054551
NM_000554.5(CRX):c.*436G>T rs759530877
NM_000554.5(CRX):c.*527C>T rs371749408
NM_000554.5(CRX):c.*579T>C rs4356586
NM_000554.5(CRX):c.*591G>C rs3859430
NM_000554.5(CRX):c.*595C>T rs111448395
NM_000554.5(CRX):c.*679G>A rs112202398
NM_000554.5(CRX):c.*682C>T rs3859431
NM_000554.5(CRX):c.*683G>A rs867379668
NM_000554.5(CRX):c.*6G>A rs375770558
NM_000554.5(CRX):c.*746T>C rs886054552
NM_000554.5(CRX):c.*754_*756dupTTT rs60558029
NM_000554.5(CRX):c.*756T>A rs886054553
NM_000554.5(CRX):c.*756dupT rs60558029
NM_000554.5(CRX):c.*767G>A rs544037698
NM_000554.5(CRX):c.*769G>A rs55835533
NM_000554.5(CRX):c.*809C>G rs574128797
NM_000554.5(CRX):c.*839C>T rs541379131
NM_000554.5(CRX):c.*860C>T rs185098538
NM_000554.5(CRX):c.*907C>T rs559582292
NM_000554.5(CRX):c.*908G>A rs886054554
NM_000554.5(CRX):c.*966G>C rs3933489
NM_000554.5(CRX):c.*972C>G rs12462416
NM_000554.5(CRX):c.*996C>G rs550939154
NM_000554.5(CRX):c.-116T>C rs10418215
NM_000554.5(CRX):c.-39G>C rs531267959
NM_000554.5(CRX):c.-55C>T rs886054543
NM_000554.5(CRX):c.100+12C>T rs62128766
NM_000554.5(CRX):c.101-12A>G rs73941294
NM_000554.5(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.5(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000554.5(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.5(CRX):c.253-15G>A rs145805694
NM_000554.5(CRX):c.268C>T (p.Arg90Trp) rs104894673
NM_000554.5(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000554.5(CRX):c.520delG (p.Ala174Argfs) rs281865515
NM_000554.5(CRX):c.529delG (p.Ala177Leufs) rs61748449
NM_000554.5(CRX):c.551C>T (p.Pro184Leu) rs147558800
NM_000554.5(CRX):c.597C>T (p.Ser199=) rs61748455
NM_000554.5(CRX):c.648delC (p.Ser216Argfs) rs869312175
NM_000554.5(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.5(CRX):c.78G>A (p.Met26Ile) rs886054544
NM_000554.5(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_000554.6(CRX):c.565del (p.Ala189Profs)

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