Variants with conflicting interpretations "pathogenic" from Johns Hopkins Genomics, Johns Hopkins University and "uncertain significance" from any submitter

Minimum review status of the submission from Johns Hopkins Genomics, Johns Hopkins University:		Collection method of the submission from Johns Hopkins Genomics, Johns Hopkins University:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys)	rs201299260	0.00019
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)	rs141601766	0.00012
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	rs104886142	0.00005
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00004
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)	rs767831048	0.00001
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)	rs397508222	0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)	rs773569201	0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)	rs397508600	0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val)	rs397508763	0.00001
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)	rs121918018
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)	rs78655421

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.