ClinVar Miner

List of variants in gene CRX reported as likely benign for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000554.6(CRX):c.*1046C>T rs62128808
NM_000554.6(CRX):c.*1063C>T rs143939023
NM_000554.6(CRX):c.*1148G>C rs139073763
NM_000554.6(CRX):c.*1220G>A rs58323327
NM_000554.6(CRX):c.*1289G>A rs62128809
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1671G>A rs550538685
NM_000554.6(CRX):c.*1792C>T rs56226622
NM_000554.6(CRX):c.*1917G>A rs557773336
NM_000554.6(CRX):c.*1961G>A rs117186518
NM_000554.6(CRX):c.*19C>T rs79186398
NM_000554.6(CRX):c.*2017C>T rs73038753
NM_000554.6(CRX):c.*2039C>T rs189556251
NM_000554.6(CRX):c.*2137G>A rs181823708
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2299C>T rs73038757
NM_000554.6(CRX):c.*2375G>A rs188212480
NM_000554.6(CRX):c.*2380C>T rs62128810
NM_000554.6(CRX):c.*2396C>T rs374128749
NM_000554.6(CRX):c.*2539C>T rs146417527
NM_000554.6(CRX):c.*2602C>T rs562310108
NM_000554.6(CRX):c.*2739G>A rs149039830
NM_000554.6(CRX):c.*2758C>A rs117717088
NM_000554.6(CRX):c.*2880T>C rs142202442
NM_000554.6(CRX):c.*3285C>G rs62128811
NM_000554.6(CRX):c.*527C>T rs371749408
NM_000554.6(CRX):c.*595C>T rs111448395
NM_000554.6(CRX):c.*679G>A rs112202398
NM_000554.6(CRX):c.*767G>A rs544037698
NM_000554.6(CRX):c.*860C>T rs185098538
NM_000554.6(CRX):c.*972C>G rs12462416
NM_000554.6(CRX):c.*996C>G rs550939154
NM_000554.6(CRX):c.-39G>C rs531267959
NM_000554.6(CRX):c.101-12A>G rs73941294
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.6(CRX):c.253-15G>A rs145805694
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800

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