ClinVar Miner

List of variants studied for cardiac rhythm disease by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.14655+22T>C rs147311361 0.00608
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_001018005.2(TPM1):c.240+4430G>A rs397516490 0.00003
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_000238.4(KCNH2):c.1982C>T (p.Ala661Val) rs768519164 0.00001
NM_000335.5(SCN5A):c.1672C>T (p.His558Tyr) rs966323009 0.00001
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His) rs1247067433 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His) rs199472843
NM_000257.4(MYH7):c.2581G>A (p.Glu861Lys) rs868789318
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs) rs756159737
NM_000335.5(SCN5A):c.5150G>A (p.Ser1717Asn) rs2061032297
NM_000363.5(TNNI3):c.500T>C (p.Leu167Pro) rs1391407750
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly) rs755846732
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) rs1692948853
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly) rs397516513
NM_004415.4(DSP):c.1388T>C (p.Leu463Pro) rs1758934036
NM_004415.4(DSP):c.7186T>A (p.Tyr2396Asn) rs863225268
NM_014000.3(VCL):c.1559G>A (p.Arg520Gln) rs757009736
NM_170707.4(LMNA):c.80C>G (p.Thr27Ser) rs863225270

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.