ClinVar Miner

List of variants reported as likely pathogenic for arrhythmogenic right ventricular dysplasia 9 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.2446-2A>C rs1060501188 0.00001
NC_000012.11:g.(?_32945558)_(32949252_?)dup
NC_000012.11:g.(?_32949023)_(32949252_?)del
NC_000012.11:g.(?_32949033)_(32949242_?)del
NC_000012.11:g.(?_32974270)_(32977116_?)dup
NC_000012.11:g.(?_32975391)_(32977106_?)dup
NC_000012.11:g.(?_32993942)_(33003927_?)dup
NC_000012.11:g.(?_33021841)_(33031986_?)dup
NC_000012.12:g.(?_32792634)_(32796308_?)dup
NC_000012.12:g.(?_32850756)_(32850983_?)dup
NM_001005242.3(PKP2):c.1034+1G>C rs869025496
NM_001005242.3(PKP2):c.1034+1G>T rs869025496
NM_001005242.3(PKP2):c.1378+2T>A rs762103704
NM_001005242.3(PKP2):c.1379-1976G>A rs1332615728
NM_001005242.3(PKP2):c.1379-2045_1379-1738del rs2137836547
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1675-2A>G rs2137778300
NM_001005242.3(PKP2):c.1839+2T>A
NM_001005242.3(PKP2):c.1840-1G>C rs2137774389
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.1A>T (p.Met1Leu)
NM_001005242.3(PKP2):c.2161_2167+1008del
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005242.3(PKP2):c.224-1G>A
NM_001005242.3(PKP2):c.2358-1_2358delinsTT rs1956082403
NM_001005242.3(PKP2):c.2437_2445+41del rs1064792928
NM_001005242.3(PKP2):c.2T>C (p.Met1Thr) rs1957129506
NM_001005242.3(PKP2):c.923_1034+262del

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