List of variants reported as uncertain significance for Immunodeficiency 47

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001183.6(ATP6AP1):c.319G>A (p.Gly107Ser)	rs782606567	0.00005
NM_001183.6(ATP6AP1):c.1031G>A (p.Arg344His)	rs781936333	0.00002
NM_001183.6(ATP6AP1):c.216G>A (p.Leu72=)	rs782109311	0.00001
NM_001183.6(ATP6AP1):c.674G>A (p.Arg225His)	rs782349780	0.00001
NM_001183.6(ATP6AP1):c.725G>A (p.Arg242His)	rs1302676187	0.00001
NM_001183.6(ATP6AP1):c.289-6T>C
NM_001183.6(ATP6AP1):c.301G>A (p.Asp101Asn)	rs1237549752
NM_001183.6(ATP6AP1):c.385T>C (p.Ser129Pro)	rs2523017472
NM_001183.6(ATP6AP1):c.473A>T (p.His158Leu)	rs1201151700
NM_001183.6(ATP6AP1):c.515G>C (p.Ser172Thr)	rs1557196970
NM_001183.6(ATP6AP1):c.560C>T (p.Ser187Phe)	rs2523018657
NM_001183.6(ATP6AP1):c.932T>A (p.Leu311Gln)	rs1603384499
NM_001183.6(ATP6AP1):c.971+10G>A	rs1284592695

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.