ClinVar Miner

List of variants in gene DSG2 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) rs193298428 0.00003
NM_001943.5(DSG2):c.379-1G>A rs1472037685 0.00001
NM_001943.5(DSG2):c.82-1G>A rs746353565 0.00001
NC_000018.10:g.(?_31519793)_(31519947_?)del
NC_000018.9:g.(?_29099325)_(29099910_?)del
NC_000018.9:g.(?_29099746)_(29099920_?)del
NM_001943.5(DSG2):c.1423+1G>T rs1257877047
NM_001943.5(DSG2):c.2001+1G>A
NM_001943.5(DSG2):c.2001_2001+5del rs779360113
NM_001943.5(DSG2):c.216+1G>T rs1316380114
NM_001943.5(DSG2):c.217-2A>G rs2144315483
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.524-2A>G rs2144317638
NM_001943.5(DSG2):c.691-1G>A rs1555671441
NM_001943.5(DSG2):c.81+1G>C
NM_001943.5(DSG2):c.829-1G>A
NM_001943.5(DSG2):c.829-2A>T rs2144322548

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.