List of variants reported as pathogenic by Institute of Human Genetics, University Hospital Jena

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_213655.5(WNK1):c.2908C>T (p.Gln970Ter)	rs767247980	0.00002
NM_018979.4(WNK1):c.640del (p.Met214fs)	rs1591543044
NM_213655.5(WNK1):c.2418_2419del (p.Cys806fs)	rs1951812826
NM_213655.5(WNK1):c.2612del (p.Pro871fs)	rs1951832349
NM_213655.5(WNK1):c.2870C>G (p.Ser957Ter)	rs1951856480
NM_213655.5(WNK1):c.2898_2899del (p.Gln966fs)	rs1951859185
NM_213655.5(WNK1):c.3002T>G (p.Leu1001Ter)	rs1951868262
NM_213655.5(WNK1):c.3076A>T (p.Lys1026Ter)	rs1951875500
NM_213655.5(WNK1):c.3305del (p.Pro1102fs)	rs1951897077
NM_213655.5(WNK1):c.3330C>A (p.Tyr1110Ter)	rs1951900495
NM_213655.5(WNK1):c.3422_3423del (p.Ile1141fs)	rs560235090
NM_213655.5(WNK1):c.3447dup (p.Gln1150fs)	rs755667636
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter)	rs1951913764
NM_213655.5(WNK1):c.3526_3529del (p.Thr1176fs)	rs1951917368
NM_213655.5(WNK1):c.3550_3554del (p.Phe1184fs)	rs1951919337
NM_213655.5(WNK1):c.3577_3584del (p.Ser1193fs)	rs1951922314

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.