ClinVar Miner

List of variants reported for Interstitial lung disease due to ABCA3 deficiency by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969

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