ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter) rs762753884 0.00001
NM_001005242.3(PKP2):c.1170+5G>A rs794729105
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter) rs1956192249
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2289C>A (p.Tyr763Ter)
NM_001005242.3(PKP2):c.2422del (p.Glu808fs) rs1353074803
NM_001005242.3(PKP2):c.962del (p.Val321fs)

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