List of variants studied for ABCA4-related retinopathy by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.4253+43G>A	rs61754045	0.00486
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00029
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	rs61748521	0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)	rs61749459	0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	rs62645946	0.00001
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)	rs1553187939	0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	rs61751383	0.00001
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)	rs1662938116
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)	rs1282472315
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	rs62646872
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)	rs61750642

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