ClinVar Miner

List of variants in gene ABCA4 studied for Cone-rod dystrophy 3

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952 0.00002
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 0.00001
NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His) rs765176802 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575 0.00001
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) rs1570393848
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3344T>G (p.Met1115Arg) rs376947008
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) rs387906388
NM_000350.3(ABCA4):c.4200C>A (p.Tyr1400Ter)
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) rs121909206
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5461-10T>G
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys) rs2101008373
NM_000350.3(ABCA4):c.571-2A>T rs61748534
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg) rs1658918432
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs) rs1662208443
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter) rs1662208035

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