List of variants in gene ABCA4 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	rs1801466	0.04126
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)	rs145265791	0.00005
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	rs61748550	0.00004
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	rs145961131	0.00002
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	rs62645946	0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	rs61750571	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	rs61748520	0.00001
NM_000350.3(ABCA4):c.6386+2C>G	rs61753043	0.00001
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)	rs61749451
NM_000350.3(ABCA4):c.396del (p.Leu132fs)
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377
NM_000350.3(ABCA4):c.4539+1G>T	rs61751388
NM_000350.3(ABCA4):c.5196+3_5196+6del	rs61753023
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000350.3(ABCA4):c.5898+1G>A	rs61750638
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	rs61750645
NM_000350.3(ABCA4):c.629del (p.Leu210fs)	rs2101135952
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	rs63749055

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