List of variants in gene ABCA4 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 13

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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.1522C>T (p.Arg508Cys)	rs138157885	0.00011
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	rs62642574	0.00006
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	rs61748550	0.00004
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)	rs62642570	0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	rs61750061	0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	rs768278935	0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	rs61750137	0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)	rs62646860	0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	rs760549861	0.00001
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)	rs1183074086
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)	rs1659351261
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)	rs1659200106

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