ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 2 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) rs1679845277
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) rs1685193967

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