ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular dysplasia 1 by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) rs372288373 0.00005
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750 0.00002
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487

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.