ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)	rs121434420	0.00005
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)	rs748566573	0.00001
NM_001005242.3(PKP2):c.102dup (p.Glu35fs)
NM_001005242.3(PKP2):c.32G>C (p.Gly11Ala)	rs1359957288
NM_001005242.3(PKP2):c.433_434del (p.Leu145fs)

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