ClinVar Miner

List of variants studied for familial isolated arrhythmogenic right ventricular dysplasia by KardioGenetik, Herz- und Diabeteszentrum NRW

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593 0.00002
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001943.5(DSG2):c.1353del (p.Lys451fs)
NM_001943.5(DSG2):c.216+2T>C
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_004415.4(DSP):c.1574+1G>A rs1758971797
NM_004415.4(DSP):c.3368_3372del (p.Arg1123fs)
NM_004415.4(DSP):c.4476del (p.Glu1493fs)
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024422.6(DSC2):c.776-3T>C rs752192642

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.