List of variants in gene ABCA4 reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 14

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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.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	rs61752434	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	rs61749423
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)	rs61750149
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377
NM_000350.3(ABCA4):c.4539+1G>T	rs61751388
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	rs61751389

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