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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	rs61750641	0.00048
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	rs148460146	0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)	rs1801269	0.00022
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)	rs61750120	0.00019
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	rs61750152	0.00016
NM_000350.3(ABCA4):c.5196+1137G>A	rs778234759	0.00013
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)	rs61750145	0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	rs201471607	0.00007
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	rs756840095	0.00006
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)	rs568792949	0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)	rs121909205	0.00005
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	rs61748550	0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)	rs61753021	0.00004
NM_000350.3(ABCA4):c.1937+1G>A	rs61752401	0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	rs61750155	0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	rs61753029	0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	rs61753033	0.00003
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	rs55732384	0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)	rs201855602	0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	rs61752427	0.00002
NM_000350.3(ABCA4):c.4880del (p.Leu1627fs)	rs763911476	0.00002
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)	rs61748558	0.00001
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	rs575453437	0.00001
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)	rs61749456	0.00001
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)	rs369440533	0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)	rs61750135	0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	rs61752434	0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)	rs1385119665	0.00001
NM_000350.3(ABCA4):c.4849-1G>A	rs61750156	0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	rs1211325812	0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	rs771038310	0.00001
NM_000350.3(ABCA4):c.5196+1G>A	rs61751377	0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	rs760549861	0.00001
NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)	rs771742619	0.00001
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)	rs61750651	0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)	rs781716640	0.00001
NM_006017.3(PROM1):c.1984-1G>T	rs373680665	0.00001
NM_201548.5(CERKL):c.678-1G>A	rs1209393896	0.00001
NM_000350.3(ABCA4):c.1417_1420dup (p.Thr474fs)	rs1661578005
NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter)	rs2101078482
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)	rs61749412
NM_000350.3(ABCA4):c.1994del (p.Tyr665fs)
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	rs61749423
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)	rs768435443
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)	rs2101059717
NM_000350.3(ABCA4):c.2807del (p.Lys936fs)	rs2101057370
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)	rs61752410
NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)	rs1660700260
NM_000350.3(ABCA4):c.2908del (p.Thr970fs)	rs2101057076
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	rs387906385
NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)	rs61750121
NM_000350.3(ABCA4):c.3608-1G>A
NM_000350.3(ABCA4):c.3814-2A>T	rs1660350150
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)	rs552517556
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del)	rs1467000353
NM_000350.3(ABCA4):c.4352+61G>A	rs1478038032
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377
NM_000350.3(ABCA4):c.4852T>C (p.Trp1618Arg)	rs786205446
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	rs61752439
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)	rs747950242
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	rs62646872
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	rs748706582
NM_000350.3(ABCA4):c.5461-1G>T	rs2101008577
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)	rs62642562
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)	rs62642576
NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)	rs1259778135
NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)	rs183398940
NM_000350.3(ABCA4):c.6220G>T (p.Gly2074Cys)
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)	rs2100994049
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)
NM_000350.3(ABCA4):c.67-1dup
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)	rs1662208035
NM_000350.3(ABCA4):c.768+1G>A
NM_000350.3:c.1876_1999del
NM_000554.6(CRX):c.590del (p.Pro197fs)	rs1968169100
NM_001029883.3(PCARE):c.947del (p.Asn316fs)	rs779886453
NM_003816.3(ADAM9):c.17_18del (p.Arg6fs)
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	rs543698823
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)	rs2149234796
NM_006017.3(PROM1):c.1579-3T>G	rs1355865032
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)	rs1324631413
NM_006017.3(PROM1):c.784+1G>A	rs745704627
NM_198506.5(LRIT3):c.277G>T (p.Val93Leu)	rs1479270315
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)

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