List of variants reported as pathogenic for retinal disorder by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_014249.4(NR2E3):c.119-2A>C	rs2723341	0.00038

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