List of variants in gene ABCA3 reported as likely benign for Interstitial lung disease due to ABCA3 deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.-182C>T	rs45518738	0.00580
NM_001089.3(ABCA3):c.-331C>G	rs45498101	0.00484
NM_001089.3(ABCA3):c.1869C>T (p.Val623=)	rs145502164	0.00403
NM_001089.3(ABCA3):c.2333A>G (p.His778Arg)	rs34912779	0.00387
NM_001089.3(ABCA3):c.-67C>T	rs45487892	0.00338
NM_001089.3(ABCA3):c.-120C>T	rs370407638	0.00224
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys)	rs139954112	0.00217
NM_001089.3(ABCA3):c.-368G>A	rs189133667	0.00180
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)	rs148671332	0.00172
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)	rs143552557	0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=)	rs45620539	0.00160
NM_001089.3(ABCA3):c.2796G>A (p.Val932=)	rs138500355	0.00120
NM_001089.3(ABCA3):c.393C>T (p.Ala131=)	rs145383120	0.00106
NM_001089.3(ABCA3):c.2119C>T (p.Leu707Phe)	rs147341939	0.00092
NM_001089.3(ABCA3):c.213C>T (p.Phe71=)	rs117515055	0.00088
NM_001089.3(ABCA3):c.2856C>T (p.Asp952=)	rs146956803	0.00066
NM_001089.3(ABCA3):c.447+8G>A	rs376429116	0.00054
NM_001089.3(ABCA3):c.753C>T (p.Ile251=)	rs146161376	0.00053
NM_001089.3(ABCA3):c.4547+3G>A	rs371055273	0.00048
NM_001089.3(ABCA3):c.873+10C>T	rs139685797	0.00020
NM_001089.3(ABCA3):c.1960C>G (p.Leu654Val)	rs150910102	0.00017
NM_001089.3(ABCA3):c.3207C>T (p.His1069=)	rs151260964	0.00009
NM_001089.3(ABCA3):c.446C>T (p.Ala149Val)	rs145483014	0.00008
NM_001089.3(ABCA3):c.1814G>A (p.Arg605Gln)	rs760006956	0.00004
NM_001089.3(ABCA3):c.1890C>T (p.Tyr630=)	rs572101154	0.00004
NM_001089.3(ABCA3):c.1687G>A (p.Val563Ile)	rs570927625	0.00001
NM_001089.3(ABCA3):c.2148C>T (p.Ile716=)	rs778997367	0.00001
NM_001089.3(ABCA3):c.3705T>A (p.Ala1235=)	rs1340851193	0.00001
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu)	rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)	rs141621969

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