ClinVar Miner

List of variants reported as likely benign for arrhythmogenic right ventricular dysplasia 9 by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001005242.3(PKP2):c.2168-11del rs746936605
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2357+12_2357+13insC rs1555141019

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