ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance for ABCA4-related retinopathy

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
NM_000350.3(ABCA4):c.4540-1573C>T rs144333986 0.00635
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00358
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00304
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00287
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00212
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00180
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00168
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00089
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00082
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651 0.00071
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00048
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) rs150895509 0.00032
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 0.00031
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000350.3(ABCA4):c.2383-13C>T rs56026711 0.00026
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg) rs368367104 0.00019
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) rs1339233014 0.00014
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.5714+4C>T rs376586802 0.00009
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312 0.00008
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.302+68C>T rs761188244 0.00006
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) rs759799179 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) rs2297669 0.00004
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952 0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) rs374851665 0.00004
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.303-3C>T rs777945195 0.00002
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485 0.00002
NM_000350.3(ABCA4):c.5966C>T (p.Thr1989Ile) rs766811018 0.00002
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) rs886044763 0.00002
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724 0.00001
NM_000350.3(ABCA4):c.2014A>G (p.Lys672Glu) rs377508857 0.00001
NM_000350.3(ABCA4):c.2744-402G>A rs1251023127 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412 0.00001
NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu) rs2101037181 0.00001
NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His) rs765176802 0.00001
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr) rs754899711 0.00001
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys) rs776687457 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) rs761017794 0.00001
NM_000350.3(ABCA4):c.5278C>A (p.Leu1760Ile) rs755278800 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 0.00001
NM_000350.3(ABCA4):c.5714+103A>G rs952638888 0.00001
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln) rs760353830 0.00001
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757 0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) rs372234578 0.00001
NM_000350.3(ABCA4):c.1034A>C (p.Tyr345Ser)
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu) rs765907001
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
NM_000350.3(ABCA4):c.1356+4dup rs1661600677
NM_000350.3(ABCA4):c.1519G>C (p.Asp507His)
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile) rs2524008119
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly) rs886044729
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
NM_000350.3(ABCA4):c.1838A>G (p.Asp613Gly)
NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro) rs1037595939
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu) rs61749425
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro) rs2523832449
NM_000350.3(ABCA4):c.2327A>G (p.His776Arg) rs2523821839
NM_000350.3(ABCA4):c.2653+2del rs766646086
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) rs1801581
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.302+4A>G rs1662599697
NM_000350.3(ABCA4):c.3266C>A (p.Thr1089Asn) rs2101050605
NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp) rs2101048577
NM_000350.3(ABCA4):c.396del (p.Leu132fs) rs2523999404
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.3(ABCA4):c.4307A>G (p.Asn1436Ser)
NM_000350.3(ABCA4):c.4537C>G (p.Gln1513Glu)
NM_000350.3(ABCA4):c.4539+2066C>G rs1571261864
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.5037T>G (p.Asp1679Glu)
NM_000350.3(ABCA4):c.5196+1013A>G rs886044748
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro) rs2523657983
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys) rs2101008373
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.570+1818G>T rs2523973629
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser) rs2523644693
NM_000350.3(ABCA4):c.6050G>A (p.Cys2017Tyr)
NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6282+3A>T rs2523627492
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu) rs144310835
NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg) rs1658918432
NM_000350.3(ABCA4):c.859-13T>C rs1246188478

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