List of variants in gene DSG2 reported as uncertain significance by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.221A>G (p.His74Arg)	rs201855245	0.00104
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)	rs121913010	0.00016
NM_001943.5(DSG2):c.875G>A (p.Arg292His)	rs185821167	0.00015
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)	rs201564919	0.00013
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)	rs375679311	0.00011
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)	rs769137357	0.00007
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)	rs372494397	0.00006
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)	rs775642244	0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)	rs763315024	0.00004
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)	rs200484060	0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)	rs200830807	0.00003
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)	rs767538450	0.00003
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)	rs193298428	0.00002
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)	rs752432726	0.00002
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)	rs780300040	0.00001
NM_001943.5(DSG2):c.2335-9T>C	rs757355636	0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)	rs749540432	0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)	rs1275376903	0.00001
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)	rs539821357	0.00001
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val)	rs762885186	0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)	rs943749481	0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)	rs373542380	0.00001
NM_001943.3:c.45+3_621del
NM_001943.5(DSG2):c.1058T>C (p.Ile353Thr)	rs2510915274
NM_001943.5(DSG2):c.1381C>G (p.Gln461Glu)	rs1212557775
NM_001943.5(DSG2):c.1513A>G (p.Thr505Ala)	rs2510917862
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile)	rs1567931587
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg)	rs762413624
NM_001943.5(DSG2):c.205C>A (p.Pro69Thr)	rs1568104882
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)	rs758742604
NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp)	rs1567934256
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)	rs748116844
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)	rs200264407
NM_001943.5(DSG2):c.677C>G (p.Thr226Ser)	rs751490881
NM_001943.5(DSG2):c.828_828+2del	rs786204292

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.