List of variants in gene combination CERKL, ITGA4 reported as pathogenic for inherited retinal dystrophy

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs)	rs773497189	0.00001
NM_201548.5(CERKL):c.1561_1564dup (p.Tyr522fs)
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp)	rs1201433512

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