ClinVar Miner

List of variants studied for Interstitial lung disease due to ABCA3 deficiency by Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

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Total variants: 2
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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.3313C>T (p.Leu1105Phe) rs1264428481 0.00001

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