List of variants in gene ABCA4 reported as benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	rs1762114	0.78856
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.769-32T>C	rs526016	0.24162
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.6816+28G>C	rs6666559	0.15041
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.2160+49T>C	rs56197337	0.05471
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)	rs6657239	0.04939
NM_000350.3(ABCA4):c.4254-38G>A	rs17110898	0.03389
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.6732G>A (p.Val2244=)	rs77293072	0.02574
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)	rs75267647	0.00066
NM_000350.3(ABCA4):c.1356+10dup	rs281865386
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)	rs1801666
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)	rs148091207
NM_000350.3(ABCA4):c.6006-16G>A	rs4147863
NM_000350.3(ABCA4):c.859-529GTT[5]

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