List of variants in gene ABCA4 reported by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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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.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.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.1240-65del	rs3215952
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)	rs2101079015
NM_000350.3(ABCA4):c.4128+1G>A	rs2101036750
NM_000350.3(ABCA4):c.4352+54A>G	rs547806
NM_000350.3(ABCA4):c.6006-16G>A	rs4147863

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