ClinVar Miner

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

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.2168-21_2168-20del rs200266270
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.70-11del rs572309510

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