List of variants reported as likely pathogenic for perceptual disorders by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	rs41292677	0.00308
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	rs779585931	0.00010
NM_000350.3(ABCA4):c.5460+3G>A	rs371777196	0.00008
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe)	rs372508062	0.00005
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	rs751844313	0.00003
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg)	rs1334381137	0.00002
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His)	rs765891059	0.00001
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)	rs542919944	0.00001
NM_000350.3(ABCA4):c.4253+4C>T	rs61754044	0.00001
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	rs61750659	0.00001
NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)	rs1458793437
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)	rs559674920
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)	rs61752397
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly)	rs1660480861
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
NM_000350.3(ABCA4):c.438del (p.Ile146fs)
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)
NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)
NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)	rs2100994077
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)	rs568627877
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)	rs61750649
NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)	rs2100993742
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)	rs61750655
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)

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