ClinVar Miner

List of variants reported as pathogenic for Arrhythmogenic right ventricular cardiomyopathy by Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu) rs2149404327
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs) rs754133577
NM_004415.4(DSP):c.5380-1G>A rs1759474600
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer) rs2113699280
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs) rs2113701771
NM_004415.4(DSP):c.793_794del (p.Arg265fs) rs2113669181
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) rs887847751
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) rs2144839173

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