List of variants in gene WIPF1 reported as benign for Wiskott-Aldrich syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu)	rs4972450	0.92386
NM_001375834.1(WIPF1):c.957T>G (p.Pro319=)	rs112447307	0.04681
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=)	rs116757787	0.01011
NM_001375834.1(WIPF1):c.42G>A (p.Thr14=)	rs111761533	0.00937
NM_001375834.1(WIPF1):c.339C>G (p.Ser113=)	rs76308107	0.00619
NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=)	rs149092210	0.00525
NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=)	rs76731102	0.00414
NM_001375834.1(WIPF1):c.78T>C (p.Asn26=)	rs35923393	0.00186
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)	rs138276021	0.00051
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=)	rs41270199	0.00016
NM_001375834.1(WIPF1):c.1130-8dup
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=)	rs577852991
NM_001375834.1(WIPF1):c.1342+20C>T	rs77346261
NM_001375834.1(WIPF1):c.181+13dup

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.