ClinVar Miner

List of variants in gene DSP reported as pathogenic for Arrhythmogenic right ventricular cardiomyopathy, type 8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.939+1G>A rs727504443

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.