ClinVar Miner

List of variants in gene ABCA3 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) rs149532 0.87571
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043 0.14339
NM_001089.3(ABCA3):c.991-20C>T rs13332547 0.12794
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514 0.11601
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800 0.03430
NM_001089.3(ABCA3):c.2514-8C>T rs45502600 0.02214
NM_001089.3(ABCA3):c.2264-17G>A rs45538638 0.02084
NM_001089.3(ABCA3):c.447+11C>T rs117031141 0.01911
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502 0.01632
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01317
NM_001089.3(ABCA3):c.320-17G>A rs45592133 0.00978
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00753
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164 0.00371
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) rs34912779 0.00365
NM_001089.3(ABCA3):c.614-9C>T rs45459699 0.00355
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.1766G>A (p.Arg589Gln) rs148843652 0.00297
NM_001089.3(ABCA3):c.824C>T (p.Ala275Val) rs148221984 0.00218
NM_001089.3(ABCA3):c.613+18G>T rs201364163 0.00175
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127 0.00170
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00157
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055 0.00123
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355 0.00120
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233 0.00117
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00102
NM_001089.3(ABCA3):c.1722C>T (p.Thr574=) rs138939503 0.00091
NM_001089.3(ABCA3):c.4165-14T>C rs114420154 0.00091
NM_001089.3(ABCA3):c.4909+12C>G rs200753263 0.00086
NM_001089.3(ABCA3):c.3279-11G>T rs371406050 0.00084
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907 0.00075
NM_001089.3(ABCA3):c.3195G>A (p.Leu1065=) rs140502726 0.00071
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=) rs146956803 0.00066
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376 0.00053
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_001089.3(ABCA3):c.3166G>A (p.Val1056Ile) rs34671771 0.00035
NM_001089.3(ABCA3):c.1008C>G (p.Ala336=) rs142260648 0.00024
NM_001089.3(ABCA3):c.2053-13T>A rs574506891 0.00023
NM_001089.3(ABCA3):c.873+10C>T rs139685797 0.00020
NM_001089.3(ABCA3):c.874-20G>A rs200830701 0.00019
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val) rs150910102 0.00017
NM_001089.3(ABCA3):c.3984G>T (p.Leu1328=) rs149050142 0.00015
NM_001089.3(ABCA3):c.2031C>T (p.Ile677=) rs199835654 0.00013
NM_001089.3(ABCA3):c.4548T>C (p.Ser1516=) rs150953197 0.00011
NM_001089.3(ABCA3):c.4641C>T (p.Pro1547=) rs377356391 0.00010
NM_001089.3(ABCA3):c.2263+20C>T rs144728317 0.00009
NM_001089.3(ABCA3):c.1153A>G (p.Thr385Ala) rs530540158 0.00004
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=) rs572101154 0.00004
NM_001089.3(ABCA3):c.1548C>T (p.Asn516=) rs562947317 0.00002
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1897-17G>A rs45566134
NM_001089.3(ABCA3):c.3519G>A (p.Thr1173=) rs202000806
NM_001089.3(ABCA3):c.4116= (p.Ser1372=)
NM_001089.3(ABCA3):c.447+16G>A rs559269686

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