List of variants reported as likely benign for Immunodeficiency due to MASP-2 deficiency

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006610.4(MASP2):c.1316G>A (p.Arg439His)	rs12085877	0.02961
NM_007375.4(TARDBP):c.*2331A>G	rs114897688	0.02160
NM_006610.4(MASP2):c.1617T>C (p.Asn539=)	rs72550845	0.01301
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)	rs41307788	0.00558
NM_006610.4(MASP2):c.234+13C>T	rs72647262	0.00557
NM_006610.4(MASP2):c.*184C>T	rs115750484	0.00452
NM_006610.4(MASP2):c.1064A>T (p.Asp355Val)	rs61735596	0.00303
NM_006610.4(MASP2):c.1731A>C (p.Gln577His)	rs144471433	0.00130
NM_006610.4(MASP2):c.742-12C>T	rs201703577	0.00086
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)	rs147270785	0.00066
NM_006610.4(MASP2):c.99C>T (p.Pro33=)	rs534852238	0.00007

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.