ClinVar Miner

List of variants in gene ABCA4 reported as likely benign

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Gene type:
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Total variants: 94
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HGVS dbSNP
NM_000350.2(ABCA4):c.*134G>A rs76201551
NM_000350.2(ABCA4):c.*136G>A rs55665437
NM_000350.2(ABCA4):c.*26C>A rs200946608
NM_000350.2(ABCA4):c.*299G>C rs538804441
NM_000350.2(ABCA4):c.*372A>G rs3747961
NM_000350.2(ABCA4):c.*55G>T rs201160433
NM_000350.2(ABCA4):c.-92C>T rs200102393
NM_000350.2(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.2(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668
NM_000350.2(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.2(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.2(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.2(ABCA4):c.1761-50G>A rs61754022
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.1937+15C>T rs774567553
NM_000350.2(ABCA4):c.2588-12C>G rs61751396
NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.2(ABCA4):c.2654-36C>T rs145368920
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2742C>T (p.His914=) rs1362746093
NM_000350.2(ABCA4):c.2744-5C>T rs76305791
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2918+1060G>T rs763003887
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.3051-14T>A rs17110922
NM_000350.2(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.2(ABCA4):c.3191-20C>T rs61754036
NM_000350.2(ABCA4):c.3210G>A (p.Leu1070=) rs113398504
NM_000350.2(ABCA4):c.3213G>A (p.Ser1071=) rs141233353
NM_000350.2(ABCA4):c.3264C>T (p.Pro1088=) rs140876019
NM_000350.2(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.2(ABCA4):c.3297A>C (p.Ser1099=) rs148917659
NM_000350.2(ABCA4):c.339C>T (p.Leu113=) rs1553196340
NM_000350.2(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647
NM_000350.2(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.2(ABCA4):c.3831G>A (p.Thr1277=) rs75092434
NM_000350.2(ABCA4):c.3840_3845delTGATTC (p.Asp1281_Ser1282del) rs62642572
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4050G>C (p.Leu1350=) rs141004967
NM_000350.2(ABCA4):c.4129-16G>A rs762600499
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4253+13G>A rs145766145
NM_000350.2(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4296C>T (p.Asp1432=) rs368147821
NM_000350.2(ABCA4):c.4352+14C>T rs75359153
NM_000350.2(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.2(ABCA4):c.4540-2036C>A rs886044743
NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.2(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.2(ABCA4):c.5196+1136C>A rs114147805
NM_000350.2(ABCA4):c.5196+1159G>A rs80110715
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.5898+20C>T rs761429989
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.5955C>T (p.Leu1985=) rs201545948
NM_000350.2(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.2(ABCA4):c.6522G>A (p.Pro2174=) rs143909323
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6729+21C>T rs1800699
NM_000350.2(ABCA4):c.6730-19G>A rs375179475
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958

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