List of variants studied for Polyendocrine-polyneuropathy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378457.1(DMXL2):c.-36A>C	rs6493514	0.81214
NM_001378457.1(DMXL2):c.4908A>G (p.Gly1636=)	rs10851500	0.50188
NM_001378457.1(DMXL2):c.3862T>C (p.Ser1288Pro)	rs12102203	0.49370
NM_001378457.1(DMXL2):c.27A>G (p.Gly9=)	rs2278989	0.47808
NM_001378457.1(DMXL2):c.81C>T (p.Pro27=)	rs2278990	0.47740
NM_001378457.1(DMXL2):c.8077-22C>T	rs7165887	0.46698
NM_001378457.1(DMXL2):c.2823C>T (p.Asn941=)	rs12592889	0.46637
NM_001378457.1(DMXL2):c.1346-39A>G	rs12904173	0.18855
NM_001378457.1(DMXL2):c.1490C>T (p.Thr497Met)	rs17524906	0.18836
NM_001378457.1(DMXL2):c.5051+23G>A	rs17524750	0.18767
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile)	rs2043456849
NM_001378457.1(DMXL2):c.5020A>C (p.Lys1674Gln)	rs1438220307
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)	rs606231461
NM_001378457.1(DMXL2):c.6833+11del	rs11291027
NM_001378457.1(DMXL2):c.7520+35del	rs10706765
NM_001378457.1(DMXL2):c.8794C>A (p.Pro2932Thr)	rs2039022160

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.