List of variants in gene ABCA4 reported as pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	rs61751389	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	rs61750654	0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046	0.00001
NM_000350.3(ABCA4):c.885del (p.Leu296fs)	rs764759172	0.00001

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