ClinVar Miner

List of variants studied for Interstitial lung disease due to ABCA3 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112 0.00202
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.418A>C (p.Asn140His) rs45447801 0.00032
NM_001089.3(ABCA3):c.2078C>T (p.Ser693Leu) rs200835546 0.00029
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) rs139738862 0.00023
NM_001089.3(ABCA3):c.3003C>T (p.Leu1001=) rs76519389 0.00020
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg) rs549977217 0.00013
NM_001089.3(ABCA3):c.2704G>A (p.Ala902Thr) rs367680713 0.00008
NM_001089.3(ABCA3):c.1336G>A (p.Asp446Asn) rs200803298 0.00005
NM_001089.3(ABCA3):c.4195G>A (p.Val1399Met) rs763166660 0.00003
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001089.3(ABCA3):c.2890G>A (p.Gly964Ser) rs141233327 0.00002
NM_001089.3(ABCA3):c.2148C>T (p.Ile716=) rs778997367 0.00001
NM_001089.3(ABCA3):c.3341C>T (p.Thr1114Met) rs891579143 0.00001
NM_001089.3(ABCA3):c.3426G>A (p.Trp1142Ter) rs121909181 0.00001
NM_001089.3(ABCA3):c.4090G>A (p.Glu1364Lys) rs1413175771 0.00001
NM_001089.3(ABCA3):c.440C>T (p.Pro147Leu) rs200171469 0.00001
NM_001089.3(ABCA3):c.4648C>T (p.Arg1550Trp) rs781422468 0.00001
NM_001089.3(ABCA3):c.622C>T (p.Arg208Trp) rs768483175 0.00001
NM_001089.3(ABCA3):c.1284dup (p.Gly429fs)
NM_001089.3(ABCA3):c.1303C>T (p.Arg435Ter) rs750071923
NM_001089.3(ABCA3):c.1455C>G (p.Tyr485Ter) rs1406324789
NM_001089.3(ABCA3):c.1468-2A>G
NM_001089.3(ABCA3):c.1521_1522del (p.Asp507fs)
NM_001089.3(ABCA3):c.2188_2189dup (p.Asp731fs) rs2505639879
NM_001089.3(ABCA3):c.2414+1G>A rs2505637295
NM_001089.3(ABCA3):c.2726G>A (p.Trp909Ter)
NM_001089.3(ABCA3):c.2785C>T (p.Gln929Ter)
NM_001089.3(ABCA3):c.3172del (p.Asp1058fs)
NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp) rs369277188
NM_001089.3(ABCA3):c.3347C>T (p.Ser1116Phe) rs2505623489
NM_001089.3(ABCA3):c.3600CTT[3] (p.Phe1203del) rs750862009
NM_001089.3(ABCA3):c.3768_3771del (p.Cys1256fs)
NM_001089.3(ABCA3):c.4331del (p.Gly1444fs)
NM_001089.3(ABCA3):c.447+1G>A
NM_001089.3(ABCA3):c.4556dup (p.Asn1519fs)
NM_001089.3(ABCA3):c.463C>T (p.Arg155Trp)
NM_001089.3(ABCA3):c.4657_4658del (p.Trp1554fs)
NM_001089.3(ABCA3):c.4675C>T (p.Arg1559Ter)
NM_001089.3(ABCA3):c.4751del (p.Leu1584fs)
NM_001089.3(ABCA3):c.55-1G>A rs1203870702
NM_001089.3(ABCA3):c.59G>T (p.Arg20Leu) rs201777730
NM_001089.3(ABCA3):c.746C>T (p.Pro249Leu)

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