ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Clinical Genomics Laboratory, Stanford Medicine

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala) rs775872602 0.00004
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met) rs377030538 0.00002
NM_001005242.3(PKP2):c.598G>A (p.Val200Met) rs369923216 0.00001
NM_001035.3(RYR2):c.12752A>G (p.Asn4251Ser) rs750064223 0.00001
NM_001035.3(RYR2):c.14151+1G>A rs745576995 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087 0.00001
NM_001005242.3(PKP2):c.94C>A (p.Leu32Met)
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys) rs781744343
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp) rs142129767
NM_004572.3:c.224_1034del
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly) rs367910936

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.