List of variants in gene CRX reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	rs104894673	0.00002
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	rs104894672	0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	rs61748436	0.00001
NM_000554.6(CRX):c.239A>C (p.Glu80Ala)	rs104894671
NM_000554.6(CRX):c.502del (p.Glu168fs)	rs1568626209
NM_000554.6(CRX):c.503_504del (p.Glu168fs)	rs61748446
NM_000554.6(CRX):c.520del (p.Ala174fs)	rs281865515
NM_000554.6(CRX):c.615del (p.Ser206fs)	rs281865516
NM_000554.6(CRX):c.650del (p.Gly217fs)	rs281865517
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs)	rs2123743692

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