ClinVar Miner

List of variants in gene ABCA3 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 12
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HGVS dbSNP
NM_001089.3(ABCA3):c.1417G>A (p.Val473Ile) rs556996851
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.2675G>A (p.Arg892His) rs142687030
NM_001089.3(ABCA3):c.2854G>A (p.Asp952Asn) rs144138653
NM_001089.3(ABCA3):c.3841G>A (p.Ala1281Thr) rs141745439
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.689C>T (p.Ala230Val) rs148507388
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001089.3(ABCA3):c.954C>T (p.Ile318=) rs35161127

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