ClinVar Miner

List of variants in gene LOC130007664, PKP2 studied for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004572.3(PKP2):c.-116C>T rs187291890 0.48955
NM_004572.3(PKP2):c.-90G>T rs552373947 0.00300
NM_004572.3(PKP2):c.-99T>C rs565997897 0.00098
NM_004572.3(PKP2):c.-51C>T rs886049326 0.00001
NM_004572.3(PKP2):c.-66G>C rs1157974448 0.00001
NC_000012.12:g.32896640_32896911del
NM_004572.3(PKP2):c.-70C>T rs886049327
NM_004572.3(PKP2):c.-79G>T rs886049328
NM_004572.3(PKP2):c.-97_-93dup rs886049329

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