ClinVar Miner

List of variants studied for Interstitial lung disease due to ABCA3 deficiency by Revvity Omics, Revvity

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Total variants: 14
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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.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001089.3(ABCA3):c.3505G>A (p.Val1169Met) rs546091864 0.00024
NM_001089.3(ABCA3):c.2032G>A (p.Ala678Thr) rs769584477 0.00001
NM_001089.3(ABCA3):c.-539+1575G>A
NM_001089.3(ABCA3):c.1286-2A>G rs2141715669
NM_001089.3(ABCA3):c.1467+1740T>C
NM_001089.3(ABCA3):c.1912C>T (p.Arg638Cys)
NM_001089.3(ABCA3):c.2258A>C (p.Lys753Thr)
NM_001089.3(ABCA3):c.2513+311del
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3805G>C (p.Glu1269Gln)
NM_001089.3(ABCA3):c.3997del (p.Arg1333fs)
NM_001089.3(ABCA3):c.419A>G (p.Asn140Ser)

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