ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.155dup (p.Ser53fs) rs958681660
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr) rs771808028
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala) rs794729102
NM_001005242.3(PKP2):c.502T>C (p.Tyr168His) rs1956954455

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