ClinVar Miner

List of variants studied for Interstitial lung disease due to ABCA3 deficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) rs139738862 0.00024
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter) rs2093682532

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