ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance for ABCA4-Related Disorders

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_000350.3(ABCA4):c.*10C>A
NM_000350.3(ABCA4):c.*136G>A rs55665437
NM_000350.3(ABCA4):c.*147C>T rs773349580
NM_000350.3(ABCA4):c.*228A>T
NM_000350.3(ABCA4):c.*23C>T
NM_000350.3(ABCA4):c.*254C>A
NM_000350.3(ABCA4):c.*284T>C
NM_000350.3(ABCA4):c.*299G>C rs538804441
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1099+12G>T
NM_000350.3(ABCA4):c.1100-3C>T
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1240-8G>C rs185225547
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859
NM_000350.3(ABCA4):c.140C>T (p.Pro47Leu)
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys)
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val)
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=)
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594
NM_000350.3(ABCA4):c.1937+15C>T rs774567553
NM_000350.3(ABCA4):c.2079T>G (p.Asn693Lys)
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2383-12G>A
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829
NM_000350.3(ABCA4):c.2480G>C (p.Ser827Thr)
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=) rs770089512
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242
NM_000350.3(ABCA4):c.2533C>G (p.Leu845Val)
NM_000350.3(ABCA4):c.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030
NM_000350.3(ABCA4):c.2743+11G>A
NM_000350.3(ABCA4):c.2743+12A>C
NM_000350.3(ABCA4):c.2744-5C>T rs76305791
NM_000350.3(ABCA4):c.275G>A (p.Gly92Glu)
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.2889C>T (p.Gly963=)
NM_000350.3(ABCA4):c.2919-10T>C rs886044733
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2965G>A (p.Val989Ile)
NM_000350.3(ABCA4):c.3051-15G>T
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
NM_000350.3(ABCA4):c.3097A>G (p.Lys1033Glu)
NM_000350.3(ABCA4):c.3100T>A (p.Ser1034Thr)
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.3(ABCA4):c.3523-9C>G rs374302531
NM_000350.3(ABCA4):c.3533G>A (p.Ser1178Asn)
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=)
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr)
NM_000350.3(ABCA4):c.3574G>A (p.Val1192Ile)
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816
NM_000350.3(ABCA4):c.3607+13C>T rs374630957
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896
NM_000350.3(ABCA4):c.3755A>T (p.Glu1252Val) rs377098736
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3971C>T (p.Ala1324Val)
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967
NM_000350.3(ABCA4):c.4128+12G>A
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)
NM_000350.3(ABCA4):c.4352+13G>A rs61754048
NM_000350.3(ABCA4):c.4352+14C>T rs75359153
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=)
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4549C>T (p.Arg1517Cys)
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=) rs754531924
NM_000350.3(ABCA4):c.4848+13T>C rs374196141
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563
NM_000350.3(ABCA4):c.5018T>C (p.Val1673Ala)
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5197-4C>T rs758825834
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)
NM_000350.3(ABCA4):c.5281C>A (p.Pro1761Thr)
NM_000350.3(ABCA4):c.5312+11T>C
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5471G>C (p.Arg1824Thr)
NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr)
NM_000350.3(ABCA4):c.5533C>T (p.Leu1845Phe)
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332
NM_000350.3(ABCA4):c.5737C>A (p.Pro1913Thr)
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936
NM_000350.3(ABCA4):c.6147+8A>C
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.6439G>A (p.Ala2147Thr)
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057
NM_000350.3(ABCA4):c.9C>T (p.Phe3=)

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