ClinVar Miner

List of variants reported as pathogenic by Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg

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Total variants: 67
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HGVS dbSNP
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.2(ABCA4):c.[2588G>C;3289A>T]
NM_000350.2(ABCA4):c.[2588G>C;5153T>G]
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1239+1G>C rs765707028
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727
NM_000350.3(ABCA4):c.160+2T>C rs886044721
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1937+1G>A rs61752401
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) rs886044722
NM_000350.3(ABCA4):c.2160+1G>T rs61749427
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) rs61749441
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) rs886044737
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) rs886044745
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1G>A rs61751377
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5312+1G>A rs886044750
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG rs886044760
NM_000350.3(ABCA4):c.6386+2C>G rs61753043
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) rs886044763
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944

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