ClinVar Miner

List of variants reported as uncertain significance for Epidermolysis bullosa simplex due to plakophilin deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001005337.3(PKP1):c.*221C>T rs547062578 0.00336
NM_001005337.3(PKP1):c.263A>G (p.Tyr88Cys) rs141060367 0.00118
NM_001005337.3(PKP1):c.241G>A (p.Gly81Arg) rs147328328 0.00091
NM_001005337.3(PKP1):c.*1229C>T rs775406062 0.00064
NM_001005337.3(PKP1):c.1134C>T (p.Arg378=) rs148096263 0.00041
NM_001005337.3(PKP1):c.*2623C>G rs550560601 0.00035
NM_001005337.3(PKP1):c.*2559A>G rs563345525 0.00034
NM_001005337.3(PKP1):c.*1730G>A rs186347223 0.00033
NM_001005337.3(PKP1):c.*894T>C rs566087080 0.00024
NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys) rs200975137 0.00021
NM_001005337.3(PKP1):c.*1032C>T rs147193741 0.00019
NM_001005337.3(PKP1):c.*2281C>T rs1010792641 0.00014
NM_001005337.3(PKP1):c.1557C>T (p.Ser519=) rs150488138 0.00013
NM_001005337.3(PKP1):c.*1203C>T rs574230662 0.00012
NM_001005337.3(PKP1):c.*2460C>T rs916166946 0.00012
NM_001005337.3(PKP1):c.*2591G>A rs889060249 0.00012
NM_001005337.3(PKP1):c.*2778C>T rs886045826 0.00009
NM_001005337.3(PKP1):c.*1716C>T rs543171855 0.00006
NM_001005337.3(PKP1):c.1200T>C (p.Pro400=) rs375406840 0.00006
NM_001005337.3(PKP1):c.1237C>A (p.Leu413Met) rs370631788 0.00006
NM_001005337.3(PKP1):c.346C>T (p.Arg116Cys) rs536458815 0.00006
NM_001005337.3(PKP1):c.417C>T (p.Gly139=) rs374045033 0.00006
NM_001005337.3(PKP1):c.*1643C>A rs548099839 0.00005
NM_001005337.3(PKP1):c.1747C>T (p.Leu583=) rs369918615 0.00005
NM_001005337.3(PKP1):c.*320G>T rs886045816 0.00004
NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys) rs146785756 0.00004
NM_001005337.3(PKP1):c.1401C>T (p.Ala467=) rs569564663 0.00004
NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln) rs573352897 0.00004
NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln) rs775588543 0.00004
NM_001005337.3(PKP1):c.996C>T (p.Arg332=) rs147633517 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_001005337.3(PKP1):c.*1040G>A rs774719541 0.00003
NM_001005337.3(PKP1):c.*1498A>G rs886045822 0.00003
NM_001005337.3(PKP1):c.*329C>T rs886045817 0.00003
NM_001005337.3(PKP1):c.*56C>A rs886045812 0.00003
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) rs369806569 0.00003
NM_001005337.3(PKP1):c.1585C>T (p.Arg529Cys) rs747503125 0.00003
NM_001005337.3(PKP1):c.1934G>A (p.Arg645Lys) rs757610907 0.00003
NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln) rs139909774 0.00003
NM_001005337.3(PKP1):c.750T>C (p.Ala250=) rs201749145 0.00002
NM_001005337.3(PKP1):c.945G>A (p.Val315=) rs200097129 0.00002
NM_001005337.3(PKP1):c.*2543C>A rs140498940 0.00001
NM_001005337.3(PKP1):c.*2859G>A rs886045827 0.00001
NM_001005337.3(PKP1):c.*417G>A rs566048359 0.00001
NM_001005337.3(PKP1):c.*63G>C rs886045813 0.00001
NM_001005337.3(PKP1):c.*933A>G rs1454840941 0.00001
NM_001005337.3(PKP1):c.1014G>A (p.Leu338=) rs886045811 0.00001
NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile) rs777930312 0.00001
NM_001005337.3(PKP1):c.378G>C (p.Trp126Cys) rs886045808 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_001005337.2(PKP1):c.-235G>T rs1655631765
NM_001005337.3(PKP1):c.*1064G>A rs765354486
NM_001005337.3(PKP1):c.*1132T>A rs1657310525
NM_001005337.3(PKP1):c.*1197C>T rs540651814
NM_001005337.3(PKP1):c.*1409C>T rs886045821
NM_001005337.3(PKP1):c.*1443G>A rs530912477
NM_001005337.3(PKP1):c.*1516T>C rs886045823
NM_001005337.3(PKP1):c.*1558C>T rs1657326695
NM_001005337.3(PKP1):c.*1565C>T rs886045824
NM_001005337.3(PKP1):c.*1604C>T rs886045825
NM_001005337.3(PKP1):c.*177del rs886045814
NM_001005337.3(PKP1):c.*1812G>A rs149146601
NM_001005337.3(PKP1):c.*222G>A rs7541805
NM_001005337.3(PKP1):c.*224delinsGG rs1571568145
NM_001005337.3(PKP1):c.*2408A>G rs1657356104
NM_001005337.3(PKP1):c.*2501C>T rs1657360723
NM_001005337.3(PKP1):c.*2568_*2569insA rs139473144
NM_001005337.3(PKP1):c.*2805C>G rs1657376737
NM_001005337.3(PKP1):c.*2858C>A rs555268205
NM_001005337.3(PKP1):c.*349A>G rs886045818
NM_001005337.3(PKP1):c.*447A>T rs886045819
NM_001005337.3(PKP1):c.*448T>C rs925402795
NM_001005337.3(PKP1):c.*644G>A rs886045820
NM_001005337.3(PKP1):c.*673G>A rs74504311
NM_001005337.3(PKP1):c.*713T>G rs181019805
NM_001005337.3(PKP1):c.*741G>A rs1657297949
NM_001005337.3(PKP1):c.*861A>G rs1657302517
NM_001005337.3(PKP1):c.-96G>A rs886045807
NM_001005337.3(PKP1):c.1116G>C (p.Leu372=) rs371461061
NM_001005337.3(PKP1):c.1326G>T (p.Ala442=) rs200173870
NM_001005337.3(PKP1):c.1347+7G>A rs1558194110
NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser) rs1340478586
NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr) rs201459638
NM_001005337.3(PKP1):c.15G>T (p.Pro5=) rs760122260
NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu) rs1657000777
NM_001005337.3(PKP1):c.1681-1G>A rs1558196067
NM_001005337.3(PKP1):c.1938C>A (p.Asn646Lys) rs781360485
NM_001005337.3(PKP1):c.2093G>A (p.Gly698Asp) rs201628992
NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn) rs149029415
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)
NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu) rs773235619
NM_001005337.3(PKP1):c.819C>T (p.Cys273=) rs886045809
NM_001005337.3(PKP1):c.822C>G (p.Phe274Leu) rs886045810
NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser) rs142112484
NM_001005337.3(PKP1):c.995G>A (p.Arg332His) rs781540602
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083

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