List of variants reported as pathogenic for Stargardt disease by OMIM

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)	rs1801581	0.02951
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	rs28938473	0.00362
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00308
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	rs61748559	0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	rs121909205	0.00005
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	rs61753033	0.00003
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)	rs61751399	0.00002
NM_000350.3(ABCA4):c.1938-1G>A	rs61751263	0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	rs61750061	0.00001
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys)	rs768526003	0.00001
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)	rs61750064
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)	rs61748548
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)	rs61749433
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)	rs61749438
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val)	rs121909204
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)	rs121909206
NM_000350.3(ABCA4):c.571-2A>G	rs61748534
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)	rs61753034
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	rs137853006
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)	rs1730403199
NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs)	rs587776613
NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)	rs1131690770
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)	rs104893946

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