ClinVar Miner

List of variants in gene CRX reported as benign for Leber congenital amaurosis 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000554.5(CRX):c.*1122G>C rs73576710
NM_000554.5(CRX):c.*1346G>A rs12462534
NM_000554.5(CRX):c.*1455T>A rs10418834
NM_000554.5(CRX):c.*1900delA rs796977583
NM_000554.5(CRX):c.*2106C>T rs12982537
NM_000554.5(CRX):c.*2171C>T rs77875912
NM_000554.5(CRX):c.*2183T>C rs7259671
NM_000554.5(CRX):c.*2559G>C rs12463238
NM_000554.5(CRX):c.*2704C>T rs12974951
NM_000554.5(CRX):c.*2717G>T rs11666203
NM_000554.5(CRX):c.*2937T>C rs7248427
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.*3301T>C rs11670620
NM_000554.5(CRX):c.*400A>T rs3848536
NM_000554.5(CRX):c.*401A>C rs3848537
NM_000554.5(CRX):c.*579T>C rs4356586
NM_000554.5(CRX):c.*591G>C rs3859430
NM_000554.5(CRX):c.*682C>T rs3859431
NM_000554.5(CRX):c.*769G>A rs55835533
NM_000554.5(CRX):c.*966G>C rs3933489
NM_000554.5(CRX):c.-116T>C rs10418215
NM_000554.5(CRX):c.100+12C>T rs62128766

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