ClinVar Miner

List of variants in gene PKP1 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001005337.3(PKP1):c.1336T>C (p.Cys446Arg) rs78672252 0.00380
NM_001005337.3(PKP1):c.*896T>C rs181273328 0.00339
NM_001005337.3(PKP1):c.*786A>G rs149894452 0.00293
NM_001005337.3(PKP1):c.294A>G (p.Ser98=) rs111264274 0.00264
NM_001005337.3(PKP1):c.418G>A (p.Ala140Thr) rs77893096 0.00236
NM_001005337.3(PKP1):c.605G>A (p.Arg202His) rs78314242 0.00198
NM_001005337.3(PKP1):c.*327C>T rs188228781 0.00169
NM_001005337.3(PKP1):c.*718T>C rs184294871 0.00066
NM_001005337.3(PKP1):c.*1148C>T rs140478008 0.00061
NM_001005337.3(PKP1):c.*1555C>T rs12564605 0.00046
NM_001005337.3(PKP1):c.*1305T>C rs188915730 0.00039
NM_001005337.3(PKP1):c.1008C>T (p.Ser336=) rs148303000 0.00014
NM_001005337.3(PKP1):c.899A>C (p.Asn300Thr) rs552414505 0.00006
NM_001005337.3(PKP1):c.-116C>G rs149821471 0.00004

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