List of variants in gene PIEZO1 reported as benign for Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr)	rs6500495	0.89953
NM_001142864.4(PIEZO1):c.3699+33T>C	rs4516218	0.89952
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=)	rs6500491	0.89832
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=)	rs4782430	0.89391
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=)	rs2290902	0.87977
NM_001142864.4(PIEZO1):c.4956-3T>C	rs9935872	0.87681
NM_001142864.4(PIEZO1):c.161-32G>A	rs7201439	0.85011
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=)	rs8057031	0.63867
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=)	rs2911442	0.30977
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val)	rs1803382	0.25214
NM_001142864.4(PIEZO1):c.4775+31G>T	rs3816618	0.22643
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu)	rs11645197	0.22515
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser)	rs35159887	0.22508
NM_001142864.4(PIEZO1):c.465+8C>T	rs2242164	0.22253
NM_001142864.4(PIEZO1):c.3796+22G>A	rs2247261	0.20320
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)	rs776039915	0.00005
NM_001142864.4(PIEZO1):c.3699+20G>C	rs4424896
NM_001142864.4(PIEZO1):c.3969-5T>C	rs4782429
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=)	rs8043924
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del)	rs3217718
NM_001142864.4(PIEZO1):c.5802-27G>A	rs4401037
NM_001142864.4(PIEZO1):c.7316+21del	rs3214887

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.