ClinVar Miner

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

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Gene type:
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Total variants: 5
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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.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001089.3(ABCA3):c.4141_4142del (p.Leu1381fs) rs2093654880
NM_001089.3(ABCA3):c.817_821del (p.Tyr273fs) rs775903641

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