List of variants in gene CRX studied for Leber congenital amaurosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000554.5(CRX):c.-116T>C	rs10418215	0.08435
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.*308AAG[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)	rs1968165374
NM_000554.6(CRX):c.648del (p.Ser216fs)	rs869312175
NM_000554.6(CRX):c.[101-1G>A];[122G>A]

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