List of variants in gene ABCA4 reported as benign for perceptual disorders

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)	rs4847281	0.98746
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	rs1762114	0.78856
NM_000350.3(ABCA4):c.5585-70C>T	rs537831	0.65778
NM_000350.3(ABCA4):c.4128+156C>T	rs4147841	0.56024
NM_000350.3(ABCA4):c.302+26A>G	rs2297634	0.48752
NM_000350.3(ABCA4):c.1240-14C>T	rs4147830	0.47169
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)	rs1801555	0.27862
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)	rs3112831	0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	rs1801574	0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	rs4147857	0.20473
NM_000350.3(ABCA4):c.5715-25A>C	rs4147856	0.20432
NM_000350.3(ABCA4):c.5836-11G>A	rs1800739	0.20309
NM_000350.3(ABCA4):c.5836-43C>A	rs2275031	0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)	rs2275029	0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	rs6666652	0.17582
NM_000350.3(ABCA4):c.6730-3T>C	rs1800717	0.15096
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	rs1801359	0.13311
NM_000350.3(ABCA4):c.6282+7G>A	rs17110761	0.13306
NM_000350.3(ABCA4):c.1269C>T (p.His423=)	rs4147831	0.09402
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	rs56142141	0.03191
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	rs1801581	0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)	rs61750126	0.02895
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	rs61749417	0.00491
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)	rs61754023	0.00324
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	rs61748519	0.00185
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)	rs1800549	0.00160
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)	rs75267647	0.00066
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)	rs180921875	0.00006
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)	rs201117452	0.00005
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)	rs74516571	0.00004
NM_000350.3(ABCA4):c.1240-65del	rs3215952
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)	rs1801666
NM_000350.3(ABCA4):c.4352+54A>G	rs547806
NM_000350.3(ABCA4):c.6006-16G>A	rs4147863

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