ClinVar Miner

List of variants studied for cardiac rhythm disease by Mendelics

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile) rs373740752 0.00008
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321 0.00007
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_000720.4(CACNA1D):c.1516C>T (p.Pro506Ser) rs1576451128
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp) rs1573923041
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs) rs1574034151
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly) rs201471889
NM_001128840.3(CACNA1D):c.2248A>T (p.Ile750Phe) rs1576484361
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479

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.