ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 9 by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1839+2T>A
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs) rs397517021

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