ClinVar Miner

List of variants in gene ABCA4 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1938-773A>G rs41292683 0.03309
NM_000350.3(ABCA4):c.5019-131G>A rs55951001 0.02375
NM_000350.3(ABCA4):c.1760+169T>A rs17390419 0.02159
NM_000350.3(ABCA4):c.5196+899C>T rs145838948 0.02157
NM_000350.3(ABCA4):c.6480-224T>C rs74641924 0.01690
NM_000350.3(ABCA4):c.6148-403A>G rs115876130 0.01575
NM_000350.3(ABCA4):c.4634+136G>T rs75843983 0.01518
NM_000350.3(ABCA4):c.5197-93C>T rs72725148 0.01501
NM_000350.3(ABCA4):c.3523-288C>T rs72725162 0.01477
NM_000350.3(ABCA4):c.6729+61G>A rs56086814 0.01469
NM_000350.3(ABCA4):c.769-157T>G rs76277422 0.01380
NM_000350.3(ABCA4):c.4129-70T>A rs143653650 0.01351
NM_000350.3(ABCA4):c.1239+71T>A rs113931184 0.01349
NM_000350.3(ABCA4):c.4667+133C>T rs41292679 0.01322
NM_000350.3(ABCA4):c.2653+239T>C rs75331129 0.01320
NM_000350.3(ABCA4):c.3051-193T>C rs4847272 0.01240
NM_000350.3(ABCA4):c.4668-113G>A rs115406048 0.01232
NM_000350.3(ABCA4):c.2588-33C>T rs77805080 0.01197
NM_000350.3(ABCA4):c.3522+31C>A rs115209782 0.01145
NM_000350.3(ABCA4):c.1554+287T>C rs141819216 0.01096
NM_000350.3(ABCA4):c.5585-126T>C rs75549082 0.01088
NM_000350.3(ABCA4):c.3328+125T>A rs6675679 0.01087
NM_000350.3(ABCA4):c.67-237C>T rs116306224 0.00946
NM_000350.3(ABCA4):c.2161-287dup rs3838277 0.00942
NM_000350.3(ABCA4):c.1239+66G>A rs200943894 0.00927
NM_000350.3(ABCA4):c.1357-110C>A rs74104506 0.00927
NM_000350.3(ABCA4):c.6730-32T>A rs116314807 0.00921
NM_000350.3(ABCA4):c.3523-85C>T rs72958470 0.00912
NM_000350.3(ABCA4):c.3523-234G>A rs72958474 0.00908
NM_000350.3(ABCA4):c.3523-230G>T rs72958472 0.00905
NM_000350.3(ABCA4):c.1761-64G>A rs116585401 0.00864
NM_000350.3(ABCA4):c.1938-227G>A rs75396612 0.00855
NM_000350.3(ABCA4):c.768+508A>G rs77933221 0.00825
NM_000350.3(ABCA4):c.6479+272T>C rs113740227 0.00705
NM_000350.3(ABCA4):c.2653+57C>T rs114978109 0.00641
NM_000350.3(ABCA4):c.2743+155G>T rs114681343 0.00638
NM_000350.3(ABCA4):c.1356+173G>A rs116563912 0.00630
NM_000350.3(ABCA4):c.443-228C>A rs143202470 0.00468
NM_000350.3(ABCA4):c.2918+195G>A rs140802897 0.00457
NM_000350.3(ABCA4):c.4668-38C>T rs61754053 0.00423
NM_000350.3(ABCA4):c.4668-96C>T rs9661576 0.00421
NM_000350.3(ABCA4):c.5898+87A>G rs116198846 0.00389
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.4254-47T>C rs56142328 0.00359
NM_000350.3(ABCA4):c.3862+232G>A rs11582150 0.00342
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.769-210G>A rs185566364 0.00266
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715 0.00191
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.4253+13G>A rs145766145 0.00168
NM_000350.3(ABCA4):c.3191-20C>T rs61754036 0.00130
NM_000350.3(ABCA4):c.2653+23C>G rs2297632 0.00122
NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser) rs140952412 0.00098
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=) rs148917659 0.00073
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=) rs368147821 0.00032
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=) rs143909323 0.00015
NM_000350.3(ABCA4):c.3264C>T (p.Pro1088=) rs140876019 0.00014
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 0.00011
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.5898+20C>T rs761429989 0.00006
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773 0.00004
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668 0.00003
NM_000350.3(ABCA4):c.1538T>C (p.Val513Ala) rs750393418 0.00002
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=) rs976467572 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 0.00002
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093 0.00001
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=) rs142418039 0.00001
NM_000350.3(ABCA4):c.4129-16G>A rs762600499 0.00001
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=) rs201545948 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000350.3(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.3(ABCA4):c.1099+166G>A
NM_000350.3(ABCA4):c.1099+80A>G
NM_000350.3(ABCA4):c.1239+49TG[10] rs4147886
NM_000350.3(ABCA4):c.1239+49TG[9]
NM_000350.3(ABCA4):c.1760+22G>T rs61754020
NM_000350.3(ABCA4):c.303-144G>C rs191396638
NM_000350.3(ABCA4):c.3050+362_3050+370del rs1056176825
NM_000350.3(ABCA4):c.3050+509A>G rs56703905
NM_000350.3(ABCA4):c.339C>T (p.Leu113=) rs1553196340
NM_000350.3(ABCA4):c.3863-64del rs4147892
NM_000350.3(ABCA4):c.4129-59G>A
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.4353-33C>G rs72958466
NM_000350.3(ABCA4):c.4540-2026CT[4] rs151095233
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.5019-98C>T rs116362338
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5460+169_5460+184del rs375415519
NM_000350.3(ABCA4):c.5715-107G>A
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6386+27G>A
NM_000350.3(ABCA4):c.6479+163C>G
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379

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