List of variants reported as benign for Immunodeficiency by Labcorp Genetics (formerly Invitae), Labcorp

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138713.4(NFAT5):c.3351T>C (p.Ile1117=)	rs61730073	0.04796
NM_138713.4(NFAT5):c.1370-17C>A	rs7190054	0.01890
NM_138713.4(NFAT5):c.2526G>A (p.Glu842=)	rs61730074	0.00809
NM_138713.4(NFAT5):c.3752A>G (p.Gln1251Arg)	rs145602190	0.00369
NM_138713.4(NFAT5):c.1969T>G (p.Ser657Ala)	rs56368098	0.00159
NM_138713.4(NFAT5):c.812+19T>A	rs201212691	0.00128
NM_138713.4(NFAT5):c.4415-19G>T	rs149776149	0.00073
NM_138713.4(NFAT5):c.388G>A (p.Val130Met)	rs200933617	0.00066
NM_138713.4(NFAT5):c.2079G>A (p.Leu693=)	rs144343499	0.00059
NM_138713.4(NFAT5):c.2121T>C (p.Phe707=)	rs140247329	0.00058
NM_138713.4(NFAT5):c.1363T>C (p.Leu455=)	rs150917774	0.00050
NM_138713.4(NFAT5):c.1697C>G (p.Ala566Gly)	rs150693156	0.00048
NM_138713.4(NFAT5):c.693A>G (p.Lys231=)	rs143392508	0.00032
NM_138713.4(NFAT5):c.1839A>G (p.Pro613=)	rs140085549	0.00030
NM_138713.4(NFAT5):c.4415-10G>A	rs200584511	0.00029
NM_138713.4(NFAT5):c.543G>A (p.Gly181=)	rs56393495	0.00024
NM_138713.4(NFAT5):c.2979A>C (p.Ala993=)	rs769499907	0.00013
NM_138713.4(NFAT5):c.1197-16T>A	rs555016270	0.00011
NM_138713.4(NFAT5):c.3207G>A (p.Glu1069=)	rs563419065	0.00003
NM_138713.4(NFAT5):c.2680T>C (p.Leu894=)	rs763446860	0.00001
NM_138713.4(NFAT5):c.1005+14_1005+17del	rs751067427
NM_138713.4(NFAT5):c.1197-10del	rs746550082
NM_138713.4(NFAT5):c.1197-10dup	rs746550082
NM_138713.4(NFAT5):c.1369+16C>T	rs370755900
NM_138713.4(NFAT5):c.1505-16_1505-15insGT	rs3217434
NM_138713.4(NFAT5):c.1557+20del	rs3217435
NM_138713.4(NFAT5):c.1557+20dup	rs3217435
NM_138713.4(NFAT5):c.1691-6del	rs543739817
NM_138713.4(NFAT5):c.1691-6dup	rs543739817
NM_138713.4(NFAT5):c.1775-20T>C	rs200979203
NM_138713.4(NFAT5):c.1775-20T>G	rs200979203
NM_138713.4(NFAT5):c.4587C>T (p.Ile1529=)	rs760478635

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.