List of variants reported as pathogenic for Neuropathy, hereditary sensory and autonomic, type 2A by OMIM

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter)	rs111033591	0.00002
NM_213655.5(WNK1):c.2575C>T (p.Gln859Ter)	rs111033592	0.00001
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter)	rs111033590	0.00001
NM_018979.4(WNK1):c.1591_1592del (p.Asp531fs)	rs387906332
NM_213655.5(WNK1):c.2952del (p.Glu984fs)	rs137852734
NM_213655.5(WNK1):c.2999del (p.Arg1000fs)	rs387906331
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs)	rs137852735
NM_213655.5(WNK1):c.3305del (p.Pro1102fs)	rs1951897077
WNK1, 1-BP INS, 1134T

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.