ClinVar Miner

List of variants in gene ABCA3 reported as uncertain significance by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 22
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HGVS dbSNP
NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val)
NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro) rs761336277
NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr)
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His) rs145269995
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp) rs397518427
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His)
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.2341G>A (p.Val781Met) rs771821923
NM_001089.3(ABCA3):c.2354C>A (p.Thr785Lys) rs371756212
NM_001089.3(ABCA3):c.2411A>G (p.His804Arg) rs747443485
NM_001089.3(ABCA3):c.2534G>A (p.Ser845Asn)
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=) rs148535912
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=)
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val) rs145251229
NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val) rs149559041
NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His) rs557707047
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val) rs146651498
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp) rs148662935
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931

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