List of variants reported as uncertain significance for Interstitial lung disease due to ABCA3 deficiency by Johns Hopkins Genomics, Johns Hopkins University

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

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys)	rs117603931	0.00662
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu)	rs143929832	0.00242
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp)	rs148671332	0.00172
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser)	rs45592239	0.00170
NM_001089.3(ABCA3):c.2340C>T (p.His780=)	rs45620539	0.00160
NM_001089.3(ABCA3):c.839G>A (p.Arg280His)	rs143008553	0.00141
NM_001089.3(ABCA3):c.5C>A (p.Ala2Asp)	rs148662935	0.00083
NM_001089.3(ABCA3):c.3279G>A (p.Glu1093=)	rs148535912	0.00071
NM_001089.3(ABCA3):c.4085C>T (p.Ala1362Val)	rs145251229	0.00026
NM_001089.3(ABCA3):c.1913G>A (p.Arg638His)	rs145269995	0.00016
NM_001089.3(ABCA3):c.4979C>T (p.Ala1660Val)	rs146651498	0.00013
NM_001089.3(ABCA3):c.3613G>A (p.Gly1205Arg)	rs549977217	0.00011
NM_001089.3(ABCA3):c.4214C>T (p.Ala1405Val)	rs149559041	0.00010
NM_001089.3(ABCA3):c.3633G>A (p.Thr1211=)	rs373682740	0.00009
NM_001089.3(ABCA3):c.4393G>A (p.Asp1465Asn)	rs201955122	0.00006
NM_001089.3(ABCA3):c.1313T>C (p.Leu438Pro)	rs761336277	0.00001
NM_001089.3(ABCA3):c.2411A>G (p.His804Arg)	rs747443485	0.00001
NM_001089.3(ABCA3):c.4466G>A (p.Arg1489His)	rs557707047	0.00001
NM_001089.3(ABCA3):c.1127C>T (p.Ala376Val)	rs1463365045
NM_001089.3(ABCA3):c.1595T>C (p.Ile532Thr)	rs2093686483
NM_001089.3(ABCA3):c.2003G>A (p.Gly668Asp)	rs397518427
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His)	rs759555069
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.2534G>A (p.Ser845Asn)	rs2093668695
NM_001089.3(ABCA3):c.3052G>A (p.Gly1018Ser)
NM_001089.3(ABCA3):c.686C>T (p.Ala229Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.