ClinVar Miner

List of variants reported for Stargardt disease 1 by Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg

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ClinVar version:
Total variants: 177
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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_000350.2(ABCA4):c.[5381C>A;6148G>C]
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
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.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727
NM_000350.3(ABCA4):c.160+2T>C rs886044721
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly) rs886044729
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1937+1G>A rs61752401
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
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.2291G>A (p.Cys764Tyr) rs61749428
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.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) rs61749441
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607
NM_000350.3(ABCA4):c.2919-10T>C rs886044733
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459
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.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
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.3815T>C (p.Ile1272Thr) rs886044738
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
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.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) rs886044741
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
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.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) rs886044745
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1013A>G rs886044748
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+1G>A rs61751377
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.3(ABCA4):c.5312+1G>A rs886044750
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu) rs886044751
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn) rs62642562
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5714+4C>T rs376586802
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro) rs886044755
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) rs886044759
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG rs886044760
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6386+2C>G rs61753043
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
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.6713A>G (p.Gln2238Arg) rs886044764
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057

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