ClinVar Miner

List of variants in gene ABCA3 reported by Johns Hopkins Genomics, Johns Hopkins University

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Gene type:
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Total variants: 48
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HGVS dbSNP
NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val)
NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro) rs761336277
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr)
NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln)
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) rs145269995
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) rs397518427
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His)
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.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.2341G>A (p.Val781Met) rs771821923
NM_001089.3(ABCA3):c.2354C>A (p.Thr785Lys) rs371756212
NM_001089.3(ABCA3):c.2411A>G (p.His804Arg) rs747443485
NM_001089.3(ABCA3):c.2534G>A (p.Ser845Asn)
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys)
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del)
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=)
NM_001089.3(ABCA3):c.3705T>A (p.Ala1235=)
NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu)
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120
NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) rs973835010
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.4165-8G>A rs138769732
NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val) rs149559041
NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His) rs557707047
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014
NM_001089.3(ABCA3):c.447+8G>A
NM_001089.3(ABCA3):c.4547+3G>A rs371055273
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) rs146651498
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.753C>T (p.Ile251=) rs146161376
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) rs775903641
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260
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.875A>T (p.Glu292Val) rs149989682

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