List of variants in gene combination ABCA4, LOC126805794 reported as likely pathogenic for ABCA4-related retinopathy

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)	rs1570367144
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)	rs1660360744
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)	rs886044738

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