ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001035.3(RYR2):c.7382G>A (p.Cys2461Tyr) rs373193260
NM_004415.4(DSP):c.3679C>T (p.Gln1227Ter) rs1581816089
NM_133378.4(TTN):c.37385_37387delAAG rs759525338

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