ClinVar Miner

List of variants in gene DSC2 reported as uncertain significance for Arrhythmogenic right ventricular cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.*1237G>A rs28530723 0.00292
NM_024422.6(DSC2):c.*185A>G rs147458812 0.00227
NM_024422.6(DSC2):c.*1104G>A rs186055396 0.00080
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607 0.00016
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_024422.6(DSC2):c.*166C>G rs886053692 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.*784G>T rs1613246 0.00002
NM_024422.6(DSC2):c.2664G>T (p.Glu888Asp) rs748675400 0.00002
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.*1126G>T rs886053687
NM_024422.6(DSC2):c.*1923C>A rs886053682
NM_024422.6(DSC2):c.*640G>T rs886053691
NM_024422.6(DSC2):c.*709CT[3] rs886053690
NM_024422.6(DSC2):c.*764dup rs796836744
NM_024422.6(DSC2):c.*833G>C rs886053689
NM_024422.6(DSC2):c.*934C>A rs886053688
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) rs180863872
NM_024422.6(DSC2):c.2251-3C>T rs2144784605
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065

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.