ClinVar Miner

List of variants in gene ABCA3 reported as likely benign for Surfactant metabolism dysfunction, pulmonary, 3

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Total variants: 28
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HGVS dbSNP
NM_001089.3(ABCA3):c.-120C>T rs370407638
NM_001089.3(ABCA3):c.-182C>T rs45518738
NM_001089.3(ABCA3):c.-331C>G rs45498101
NM_001089.3(ABCA3):c.-368G>A rs189133667
NM_001089.3(ABCA3):c.-67C>T rs45487892
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile)
NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln)
NM_001089.3(ABCA3):c.1869C>T (p.Val623=) rs145502164
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=)
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe) rs147341939
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332
NM_001089.3(ABCA3):c.213C>T (p.Phe71=) rs117515055
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg) rs34912779
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539
NM_001089.3(ABCA3):c.2796G>A (p.Val932=) rs138500355
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=)
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964
NM_001089.3(ABCA3):c.3705T>A (p.Ala1235=)
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val) rs145483014
NM_001089.3(ABCA3):c.447+8G>A
NM_001089.3(ABCA3):c.4547+3G>A rs371055273
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376
NM_001089.3(ABCA3):c.873+10C>T rs139685797

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