ClinVar Miner

List of variants reported as likely pathogenic for Arrhythmogenic right ventricular cardiomyopathy, type 9

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Total variants: 21
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HGVS dbSNP
NC_000012.12:g.(?_32792634)_(32796308_?)dup
NC_000012.12:g.(?_32850756)_(32850983_?)dup
NM_001005242.3(PKP2):c.1034+1G>T rs869025496
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.2161_2167+1008del
NM_001005242.3(PKP2):c.2358-1_2358delinsTT
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004572.3(PKP2):c.1034+1G>C rs869025496
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1378+2T>A
NM_004572.3(PKP2):c.1510+1G>A rs1332615728
NM_004572.3(PKP2):c.1511-2A>T rs1453983744
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1689-2A>G rs1555143143
NM_004572.3(PKP2):c.2300-1G>A rs1060501184
NM_004572.3(PKP2):c.2578-2A>C rs1060501188
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly) rs1114167345
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) rs727505038

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