ClinVar Miner

List of variants reported as likely pathogenic for familial isolated arrhythmogenic right ventricular dysplasia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001035.3(RYR2):c.1031_1035del (p.Lys344fs) rs2150146622
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.8659dup (p.Glu2887fs) rs1685193967
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer) rs2073222422
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.523+1G>T rs553299589
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2152del (p.Ala718fs) rs760915248

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