ClinVar Miner

List of variants in gene ABCA3 reported as likely pathogenic

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.1474dup (p.Tyr492fs) rs756855585 0.00002
NM_001089.3(ABCA3):c.2883C>T (p.Gly961=) rs1298655924 0.00001
NM_001089.3(ABCA3):c.3228C>G (p.Asn1076Lys) rs2093663770 0.00001
NM_001089.3(ABCA3):c.3677T>C (p.Leu1226Pro) rs1301223664 0.00001
NM_001089.3(ABCA3):c.3973G>A (p.Glu1325Lys) rs973835010 0.00001
NM_001089.3(ABCA3):c.622C>T (p.Arg208Trp) rs768483175 0.00001
NM_001089.3(ABCA3):c.1112-20G>A
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)
NM_001089.3(ABCA3):c.1285+4_1285+7del
NM_001089.3(ABCA3):c.1310T>C (p.Leu437Pro)
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001089.3(ABCA3):c.233G>C (p.Trp78Ser) rs2093733845
NM_001089.3(ABCA3):c.2414+1G>A
NM_001089.3(ABCA3):c.2741A>G (p.Lys914Arg)
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.3145T>C (p.Ser1049Pro) rs1460001890
NM_001089.3(ABCA3):c.3208G>A (p.Ala1070Thr)
NM_001089.3(ABCA3):c.3341C>T (p.Thr1114Met)
NM_001089.3(ABCA3):c.3483+1G>A
NM_001089.3(ABCA3):c.3563A>G (p.Tyr1188Cys)
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3905G>A (p.Gly1302Glu) rs2093657978
NM_001089.3(ABCA3):c.3997del (p.Arg1333fs)
NM_001089.3(ABCA3):c.4331dup (p.His1445fs)
NM_001089.3(ABCA3):c.4359+2T>G
NM_001089.3(ABCA3):c.4376G>A (p.Gly1459Asp)
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu)
NM_001089.3(ABCA3):c.4618G>A (p.Glu1540Lys)
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp)
NM_001089.3(ABCA3):c.4885dup (p.Ala1629fs) rs2093649055
NM_001089.3(ABCA3):c.55-1G>A
NM_001089.3(ABCA3):c.557C>T (p.Pro186Leu)
NM_001089.3(ABCA3):c.613+4A>G
NM_001089.3(ABCA3):c.614-2A>G rs773223403
NM_001089.3(ABCA3):c.629G>T (p.Gly210Val)
NM_001089.3(ABCA3):c.737C>T (p.Pro246Leu)
NM_001089.3(ABCA3):c.743C>T (p.Pro248Leu)
NM_001089.3(ABCA3):c.990+1G>T
NM_001089.3(ABCA3):c.991-2A>G

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