List of variants in gene ABCA3 reported as likely benign by Johns Hopkins Genomics, Johns Hopkins University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.5101G>A (p.Glu1701Lys)	rs139954112	0.00217
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=)	rs143552557	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.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.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.3705T>A (p.Ala1235=)	rs1340851193	0.00001
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu)	rs150543946

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