List of variants reported as likely pathogenic for severe early-childhood-onset retinal dystrophy by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	rs1801466	0.04034
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	rs1801581	0.02951
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	rs62646862	0.00287
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00164
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	rs1800548	0.00089
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	rs201855602	0.00003
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	rs760549861	0.00001
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)	rs1570393727
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	rs1557787473
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	rs141823837
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)	rs61749429
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)	rs1570433137
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)	rs1012017728
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	rs61752439

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