ClinVar Miner

List of variants in gene CRX studied for Leber congenital amaurosis

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Total variants: 11
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HGVS dbSNP
NM_000554.5(CRX):c.-116T>C rs10418215
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308_*310AAG[2] rs398059782
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_000554.6(CRX):c.443del (p.Gly148fs)
NM_000554.6(CRX):c.648del (p.Ser216fs) rs869312175
NM_000554.6(CRX):c.[101-1G>A];[122G>A]

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