List of variants studied for immune system disorder by Institute of Human Genetics, University Hospital of Duesseldorf

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)	rs117148013	0.00078
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)	rs142248228	0.00070
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln)	rs200017837	0.00007
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)	rs200299650	0.00005
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	rs587778080	0.00001
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)	rs147278787
NM_022168.4(IFIH1):c.2947A>G (p.Lys983Glu)
NM_152564.5(VPS13B):c.8126G>A (p.Cys2709Tyr)

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.