ClinVar Miner

List of variants studied for cardiac rhythm disease by Center for Human Genetics, University of Leuven

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp) rs371711564 0.00003
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001035.3(RYR2):c.11996T>C (p.Met3999Thr) rs1553322494
NM_001035.3(RYR2):c.14650A>G (p.Met4884Val) rs1553341966
NM_005477.3(HCN4):c.1928T>G (p.Leu643Arg) rs1555475541

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