ClinVar Miner

List of variants reported as likely benign for Epidermolysis bullosa simplex due to plakophilin deficiency

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
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_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_001005337.3(PKP1):c.605G>A (p.Arg202His) rs78314242 0.00198
NM_001005337.3(PKP1):c.*327C>T rs188228781 0.00169
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
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_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031 0.00027
NM_001005337.3(PKP1):c.1008C>T (p.Ser336=) rs148303000 0.00014
NM_004415.3(DSP):c.-281C>T rs547069600 0.00014
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_001005337.3(PKP1):c.899A>C (p.Asn300Thr) rs552414505 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_001005337.3(PKP1):c.-116C>G rs149821471 0.00004
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622 0.00004

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