List of variants in gene ABCA4 reported as pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
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.5316G>A (p.Trp1772Ter)	rs61750571	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.6386+2C>G	rs61753043	0.00001
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377
NM_000350.3(ABCA4):c.4539+1G>T	rs61751388
NM_000350.3(ABCA4):c.5898+1G>A	rs61750638
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	rs63749055

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