ClinVar Miner

List of variants reported as uncertain significance for Interstitial lung disease due to ABCA3 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161 0.00061
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) rs200835546 0.00029
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) rs139738862 0.00024
NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=) rs76519389 0.00020
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) rs549977217 0.00011
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr) rs367680713 0.00008
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) rs200803298 0.00005

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