List of variants in gene ABCA4 reported as uncertain significance 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)	rs61749435	0.00385
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	rs56357060	0.00189
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)	rs61754030	0.00174
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	rs1800552	0.00153
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)	rs61749440	0.00133
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	rs61748532	0.00033
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys)	rs61749441	0.00003
NM_000350.3(ABCA4):c.4402C>G (p.Pro1468Ala)	rs775082837	0.00002
NM_000350.3(ABCA4):c.3962C>T (p.Ser1321Phe)	rs779524552	0.00001
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)	rs61748548
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys)	rs886039297
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)	rs568792949
NM_000350.3(ABCA4):c.4535C>T (p.Pro1512Leu)	rs61750150
NM_000350.3(ABCA4):c.5584+6T>C	rs61750633
NM_000350.3(ABCA4):c.6729+5_6729+19del	rs749526785
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)	rs144310835

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