List of variants in gene combination ABCA4, LOC126805793 reported as likely pathogenic for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.4849-1G>A	rs61750156	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.4871G>A (p.Trp1624Ter)
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	rs1085307968
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)	rs1571257754

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