List of variants in gene ABCA4 reported as pathogenic for Autosomal recessive retinitis pigmentosa

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	rs61748549	0.00066
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	rs768278935	0.00001
NM_000350.3(ABCA4):c.1615del (p.Leu539fs)	rs1661179785
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)	rs793888523
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)	rs786205447
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)	rs61750140
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)	rs786205445
NM_000350.3(ABCA4):c.5460+1G>A	rs61753030
NM_000350.3(ABCA4):c.5642C>G (p.Ala1881Gly)	rs369973540
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	rs61751389

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