ClinVar Miner

List of variants in gene ABCA3 reported as pathogenic

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Total variants: 14
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HGVS dbSNP
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105
NM_001089.3(ABCA3):c.1702A>G (p.Asn568Asp) rs121909184
NM_001089.3(ABCA3):c.1729_1730del (p.Ser577fs)
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter)
NM_001089.3(ABCA3):c.302T>C (p.Leu101Pro) rs121909182
NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter) rs121909181
NM_001089.3(ABCA3):c.4545C>G (p.Tyr1515Ter)
NM_001089.3(ABCA3):c.4658T>C (p.Leu1553Pro) rs121909183
NM_001089.3(ABCA3):c.4772A>C (p.Gln1591Pro) rs28936691
NM_001089.3(ABCA3):c.4909+1G>A rs1567335355
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.875A>T (p.Glu292Val) rs149989682
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185

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