ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NM_000427.3(LORICRIN):c.112_114GGC[5] (p.Gly41dup) rs770195151
NM_001110219.3(GJB6):c.*25C>T rs112845420
NM_001110219.3(GJB6):c.*559C>T rs886050029
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.*714C>T rs76179836
NM_001110219.3(GJB6):c.-122T>C rs886050031
NM_001110219.3(GJB6):c.-149G>A rs886050032
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-26A>G rs886050030
NM_001110219.3(GJB6):c.-295-100C>T rs55901410
NM_001110219.3(GJB6):c.-295-129G>A rs539881427
NM_001110219.3(GJB6):c.-295-192A>G rs886050036
NM_001110219.3(GJB6):c.-295-210G>A rs61058739
NM_001110219.3(GJB6):c.-295-278G>A rs573703525
NM_001110219.3(GJB6):c.-295-99A>C rs886050035
NM_001110219.3(GJB6):c.-296+210C>A rs886050039
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.-296+269G>A rs142230271
NM_001110219.3(GJB6):c.-296+283T>C rs886050037
NM_001110219.3(GJB6):c.-3G>A rs372835743
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633
NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe) rs750540794
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln)
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_024009.2(GJB3):c.-606T>C rs538085084
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*191C>T rs541330173
NM_024009.3(GJB3):c.*306C>T rs1015503523
NM_024009.3(GJB3):c.*532del rs935438706
NM_024009.3(GJB3):c.*541G>A rs1057515516
NM_024009.3(GJB3):c.*75del rs1057515478
NM_024009.3(GJB3):c.*80G>C rs779242382
NM_024009.3(GJB3):c.-159T>C rs987840683
NM_024009.3(GJB3):c.-177G>A rs1057515477
NM_024009.3(GJB3):c.-18C>T rs371413520
NM_024009.3(GJB3):c.-231G>A rs1057515551
NM_024009.3(GJB3):c.-307T>C rs764352147
NM_024009.3(GJB3):c.-383G>A rs1057515476
NM_024009.3(GJB3):c.-398C>G rs1057515443
NM_024009.3(GJB3):c.-93C>T rs1057515515
NM_024009.3(GJB3):c.165C>T (p.Thr55=) rs779347602
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331
NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) rs758319723
NM_145068.3(TRPV3):c.-177C>T rs886052858
NM_145068.3(TRPV3):c.-220G>A rs773689429
NM_145068.3(TRPV3):c.-234C>T rs568432604
NM_145068.3(TRPV3):c.-245G>A rs886052859
NM_145068.3(TRPV3):c.-313C>T rs540741805
NM_145068.3(TRPV3):c.-318A>G rs112731342
NM_145068.4(TRPV3):c.*1110_*1111TG[1] rs886052849
NM_145068.4(TRPV3):c.*1218G>A rs886052848
NM_145068.4(TRPV3):c.*132G>C rs745761873
NM_145068.4(TRPV3):c.*1485G>A rs542568031
NM_145068.4(TRPV3):c.*1590del rs869218825
NM_145068.4(TRPV3):c.*1591G>C rs5010536
NM_145068.4(TRPV3):c.*1591_*1592insC rs112072753
NM_145068.4(TRPV3):c.*1625C>G rs886052847
NM_145068.4(TRPV3):c.*1669G>A rs886052846
NM_145068.4(TRPV3):c.*1940T>G rs886052845
NM_145068.4(TRPV3):c.*2019A>G rs753994797
NM_145068.4(TRPV3):c.*2296T>C rs886052844
NM_145068.4(TRPV3):c.*2365T>C rs886052843
NM_145068.4(TRPV3):c.*2490T>C rs886052842
NM_145068.4(TRPV3):c.*2622G>T rs886052841
NM_145068.4(TRPV3):c.*2671C>T rs886052840
NM_145068.4(TRPV3):c.*2895C>G rs886052839
NM_145068.4(TRPV3):c.*3045G>T rs773007859
NM_145068.4(TRPV3):c.*3148G>A rs886052838
NM_145068.4(TRPV3):c.*3295G>C rs886052837
NM_145068.4(TRPV3):c.*32C>T rs368105861
NM_145068.4(TRPV3):c.*3302_*3303TG[5] rs886052836
NM_145068.4(TRPV3):c.*3340C>G rs886052835
NM_145068.4(TRPV3):c.*631A>G rs886052851
NM_145068.4(TRPV3):c.*74G>C rs886052854
NM_145068.4(TRPV3):c.*752dup rs886052850
NM_145068.4(TRPV3):c.*837A>G rs758698680
NM_145068.4(TRPV3):c.*842A>G rs767061806
NM_145068.4(TRPV3):c.*85A>G rs886052853
NM_145068.4(TRPV3):c.*92A>C rs886052852
NM_145068.4(TRPV3):c.1063G>A (p.Glu355Lys) rs747712652
NM_145068.4(TRPV3):c.1066-5C>G rs778105648
NM_145068.4(TRPV3):c.1078A>C (p.Ile360Leu) rs767689187
NM_145068.4(TRPV3):c.1236C>T (p.Asn412=) rs141578451
NM_145068.4(TRPV3):c.1243-4C>T rs886052856
NM_145068.4(TRPV3):c.1503+15C>T rs369415284
NM_145068.4(TRPV3):c.1622T>C (p.Leu541Ser) rs764913664
NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) rs746336365
NM_145068.4(TRPV3):c.2011A>G (p.Asn671Asp) rs886052855
NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) rs779977306
NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) rs760726969
NM_145068.4(TRPV3):c.501G>A (p.Thr167=) rs780723914
NM_145068.4(TRPV3):c.615C>T (p.Asn205=) rs372599650
NM_145068.4(TRPV3):c.6A>C (p.Lys2Asn) rs886052857
NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter) rs1085307103
NM_145068.4(TRPV3):c.956G>A (p.Arg319His) rs151284467

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