ClinVar Miner

List of variants in gene ABCA3 reported by Invitae

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Total variants: 43
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HGVS dbSNP
NM_001089.3(ABCA3):c.1434C>T (p.Phe478=) rs199642666
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1584G>A (p.Ala528=) rs377539769
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)
NM_001089.3(ABCA3):c.1766G>A (p.Arg589Gln) rs148843652
NM_001089.3(ABCA3):c.1815G>C (p.Arg605=) rs1596843930
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.2241G>A (p.Ser747=) rs148046277
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) rs34912779
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569
NM_001089.3(ABCA3):c.2910C>T (p.Phe970=) rs1596835703
NM_001089.3(ABCA3):c.3141C>T (p.Tyr1047=) rs1317615053
NM_001089.3(ABCA3):c.3166G>A (p.Val1056Ile) rs34671771
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120
NM_001089.3(ABCA3):c.4017C>G (p.Leu1339=) rs1158347011
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.4105C>T (p.Leu1369=) rs999637490
NM_001089.3(ABCA3):c.4116= (p.Ser1372=)
NM_001089.3(ABCA3):c.4165-8G>A rs138769732
NM_001089.3(ABCA3):c.4386G>A (p.Pro1462=) rs562200919
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.4944C>T (p.Val1648=) rs142584479
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) rs148662935
NM_001089.3(ABCA3):c.614-9C>T rs45459699
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699
NM_001089.3(ABCA3):c.639C>A (p.Ala213=) rs778504757
NM_001089.3(ABCA3):c.822C>T (p.Thr274=) rs142073032
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931
NM_001089.3(ABCA3):c.873+10C>T rs139685797
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127

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