ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001005337.3(PKP1):c.*1689C>A rs10800772 0.94721
NM_001005337.3(PKP1):c.*1673T>C rs10920175 0.90727
NM_001005337.3(PKP1):c.*2737C>G rs1046970 0.83729
NM_001005337.3(PKP1):c.*2704A>G rs1046962 0.81800
NM_001005337.3(PKP1):c.*301A>C rs947376 0.67547
NM_001005337.3(PKP1):c.*579G>A rs10920174 0.63130
NM_001005337.3(PKP1):c.*683A>G rs1105331 0.62704
NM_001005337.3(PKP1):c.*731G>A rs3795629 0.62704
NM_001005337.3(PKP1):c.-130A>T rs861275 0.61555
NM_001005337.3(PKP1):c.*2527G>A rs12143423 0.30596
NM_001005337.3(PKP1):c.918C>T (p.Ala306=) rs1722779 0.18826
NM_001005337.3(PKP1):c.36C>T (p.Tyr12=) rs2268147 0.16943
NM_001005337.3(PKP1):c.*1942A>C rs12120834 0.16823
NM_001005337.3(PKP1):c.*856C>T rs1104755 0.14845
NM_001005337.3(PKP1):c.733C>T (p.Leu245=) rs7514146 0.14655
NM_001005337.3(PKP1):c.*1884G>A rs17425876 0.14570
NM_001005337.3(PKP1):c.*222G>C rs7541805 0.14395
NM_001005337.3(PKP1):c.586A>G (p.Ile196Val) rs35507614 0.10831
NM_001005337.3(PKP1):c.*2542G>A rs58828153 0.10661
NM_001005337.3(PKP1):c.*192G>A rs114649649 0.04595
NM_001005337.3(PKP1):c.*924T>C rs3795630 0.04442
NM_001005337.3(PKP1):c.*709G>A rs3795628 0.04432
NM_001005337.3(PKP1):c.*2505C>G rs61819987 0.04427
NM_001005337.3(PKP1):c.*864G>T rs61819986 0.04418
NM_001005337.3(PKP1):c.*151G>A rs79906867 0.04378
NM_001005337.3(PKP1):c.*2752G>A rs73074694 0.02733
NM_001005337.3(PKP1):c.347G>A (p.Arg116His) rs34626929 0.02419
NM_001005337.3(PKP1):c.482G>A (p.Cys161Tyr) rs34704938 0.01989
NM_001005337.3(PKP1):c.2050C>T (p.Arg684Trp) rs61818256 0.01492
NM_001005337.3(PKP1):c.1325C>T (p.Ala442Val) rs10920171 0.00591
NM_001005337.3(PKP1):c.*2850C>A rs535674127 0.00416
NM_001005337.3(PKP1):c.-86C>A rs117651274 0.00081
NM_001005337.3(PKP1):c.1742G>A (p.Arg581His) rs142096411 0.00076
NM_001005337.3(PKP1):c.*2362C>T rs77409791
NM_001005337.3(PKP1):c.*2569_*2571C[5]ACCCTGACCC[1] rs61710598
NM_001005337.3(PKP1):c.*616A>C rs2365648
NM_001005337.3(PKP1):c.*673G>T rs74504311
NM_001005337.3(PKP1):c.1504-15G>T rs73074652

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