ClinVar Miner

List of variants reported as uncertain significance for diffuse palmoplantar keratoderma by Invitae

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) rs146902156 0.00067
NM_020751.3(COG6):c.1759C>T (p.Arg587Cys) rs144843064 0.00061
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_025216.3(WNT10A):c.668G>A (p.Arg223His) rs143424659 0.00028
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001814.6(CTSC):c.259A>G (p.Ile87Val) rs45447392 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile) rs373607885 0.00016
NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly) rs143962007 0.00014
NM_001814.6(CTSC):c.1324C>T (p.Arg442Cys) rs146182103 0.00014
NM_020751.3(COG6):c.155A>G (p.Glu52Gly) rs201308360 0.00012
NM_020751.3(COG6):c.1021A>T (p.Asn341Tyr) rs201922229 0.00011
NM_020751.3(COG6):c.730G>A (p.Val244Ile) rs147560202 0.00011
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) rs202024965 0.00011
NM_001814.6(CTSC):c.29C>T (p.Ala10Val) rs765499436 0.00010
NM_020751.3(COG6):c.1891G>A (p.Val631Met) rs143909067 0.00010
NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly) rs141752846 0.00009
NM_001814.6(CTSC):c.1201G>A (p.Glu401Lys) rs200627023 0.00009
NM_020751.3(COG6):c.1760G>A (p.Arg587His) rs191156299 0.00009
NM_020751.3(COG6):c.1415A>G (p.Gln472Arg) rs756742630 0.00008
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 0.00006
NM_020751.3(COG6):c.1149T>G (p.Phe383Leu) rs886050227 0.00005
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp) rs200487809 0.00005
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_020751.3(COG6):c.1738G>A (p.Ala580Thr) rs773262760 0.00004
NM_020751.3(COG6):c.556C>A (p.Leu186Met) rs781524524 0.00004
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_020751.3(COG6):c.1961C>T (p.Thr654Met) rs747232819 0.00003
NM_025216.3(WNT10A):c.914G>A (p.Arg305His) rs746769946 0.00003
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr) rs748729285 0.00002
NM_020751.3(COG6):c.119A>G (p.His40Arg) rs148246113 0.00002
NM_020751.3(COG6):c.134C>T (p.Thr45Met) rs545371712 0.00002
NM_020751.3(COG6):c.1484C>G (p.Ala495Gly) rs746119230 0.00002
NM_020751.3(COG6):c.1892dup (p.Met632fs) rs1486717174 0.00002
NM_001110219.3(GJB6):c.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NM_001814.6(CTSC):c.509A>G (p.Tyr170Cys) rs763656343 0.00001
NM_020751.3(COG6):c.1009+6T>C rs752382409 0.00001
NM_020751.3(COG6):c.1247A>G (p.Asn416Ser) rs756614480 0.00001
NM_020751.3(COG6):c.697G>A (p.Glu233Lys) rs745501973 0.00001
NM_020751.3(COG6):c.868C>T (p.Pro290Ser) rs748959066 0.00001
NM_020751.3(COG6):c.920A>G (p.Tyr307Cys) rs754624882 0.00001
NM_025216.3(WNT10A):c.212A>T (p.Gln71Leu) rs368943130 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.443C>T (p.Ala148Val) rs373695499 0.00001
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn) rs758023820 0.00001
NM_025216.3(WNT10A):c.652A>G (p.Met218Val) rs373991357 0.00001
NM_025216.3(WNT10A):c.670T>C (p.Phe224Leu) rs749857233 0.00001
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln) rs772154760 0.00001
NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys) rs121908118 0.00001
NM_025216.3(WNT10A):c.756G>A (p.Gln252=) rs768536054 0.00001
NM_025216.3(WNT10A):c.7A>T (p.Ser3Cys) rs1324234734 0.00001
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys) rs1234227647 0.00001
NM_025216.3(WNT10A):c.959C>G (p.Pro320Arg) rs974508350 0.00001
NC_000011.10:g.(?_88293986)_(88337727_?)dup
NC_000011.9:g.(?_88027174)_(88029452_?)dup
NC_000011.9:g.(?_88027174)_(89018142_?)dup
NC_000013.10:g.(?_20716100)_(21398980_?)dup
NC_000013.10:g.(?_20763040)_(20797619_?)dup
NC_000013.10:g.(?_20796834)_(21099933_?)del
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)
NM_001814.6(CTSC):c.1006G>A (p.Asp336Asn)
NM_001814.6(CTSC):c.1007A>C (p.Asp336Ala)
NM_001814.6(CTSC):c.1010G>A (p.Cys337Tyr)
NM_001814.6(CTSC):c.1024T>G (p.Ser342Ala)
NM_001814.6(CTSC):c.1033T>C (p.Tyr345His)
NM_001814.6(CTSC):c.1055A>G (p.Tyr352Cys)
NM_001814.6(CTSC):c.1067A>G (p.Asn356Ser)
NM_001814.6(CTSC):c.1082A>C (p.Lys361Thr)
NM_001814.6(CTSC):c.1084C>G (p.Leu362Val)
NM_001814.6(CTSC):c.1121T>C (p.Phe374Ser)
NM_001814.6(CTSC):c.1159A>T (p.Ile387Phe)
NM_001814.6(CTSC):c.1160T>C (p.Ile387Thr)
NM_001814.6(CTSC):c.1165C>T (p.His389Tyr)
NM_001814.6(CTSC):c.1169A>G (p.His390Arg)
NM_001814.6(CTSC):c.1193A>G (p.Asn398Ser)
NM_001814.6(CTSC):c.1194C>A (p.Asn398Lys)
NM_001814.6(CTSC):c.1194C>G (p.Asn398Lys) rs201519830
NM_001814.6(CTSC):c.1222C>A (p.Leu408Met)
NM_001814.6(CTSC):c.1225C>G (p.Leu409Val)
NM_001814.6(CTSC):c.1276_1288A[5]CAGCTGGGCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAACCGCTGGGGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAACAGCTGGG[1] (p.Trp429_Gly430insAlaAlaValArgProGlyArgGlnSerGluThrProSerGlnLysLysLysLysLysLysLysLysLysAsnArgTrpGlyXaaXaaXaaXaaLysLysLysLysLysLysLysAsnSerTrp)
NM_001814.6(CTSC):c.127G>T (p.Val43Leu)
NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)
NM_001814.6(CTSC):c.1294G>A (p.Gly432Ser)
NM_001814.6(CTSC):c.1303G>A (p.Glu435Lys)
NM_001814.6(CTSC):c.1317C>G (p.Phe439Leu)
NM_001814.6(CTSC):c.1318C>T (p.Arg440Trp)
NM_001814.6(CTSC):c.1319G>A (p.Arg440Gln)
NM_001814.6(CTSC):c.1325G>A (p.Arg442His)
NM_001814.6(CTSC):c.1335TGA[1] (p.Asp446del)
NM_001814.6(CTSC):c.1345G>A (p.Ala449Thr)
NM_001814.6(CTSC):c.1346C>T (p.Ala449Val)
NM_001814.6(CTSC):c.1349T>C (p.Ile450Thr)
NM_001814.6(CTSC):c.134C>T (p.Ser45Phe)
NM_001814.6(CTSC):c.1351G>C (p.Glu451Gln)
NM_001814.6(CTSC):c.140G>T (p.Gly47Val)
NM_001814.6(CTSC):c.16T>G (p.Ser6Ala)
NM_001814.6(CTSC):c.175C>A (p.Pro59Thr)
NM_001814.6(CTSC):c.176C>T (p.Pro59Leu)
NM_001814.6(CTSC):c.21G>C (p.Leu7Phe)
NM_001814.6(CTSC):c.21G>T (p.Leu7Phe)
NM_001814.6(CTSC):c.233T>G (p.Leu78Arg)
NM_001814.6(CTSC):c.239A>G (p.Asn80Ser)
NM_001814.6(CTSC):c.252C>G (p.Phe84Leu)
NM_001814.6(CTSC):c.271G>C (p.Gly91Arg)
NM_001814.6(CTSC):c.290A>G (p.Asn97Ser)
NM_001814.6(CTSC):c.295T>C (p.Tyr99His)
NM_001814.6(CTSC):c.296A>T (p.Tyr99Phe)
NM_001814.6(CTSC):c.299A>G (p.Lys100Arg)
NM_001814.6(CTSC):c.308C>T (p.Ala103Val)
NM_001814.6(CTSC):c.312T>A (p.Phe104Leu)
NM_001814.6(CTSC):c.318+4_318+7del
NM_001814.6(CTSC):c.338A>G (p.Lys113Arg)
NM_001814.6(CTSC):c.340G>C (p.Val114Leu)
NM_001814.6(CTSC):c.344C>T (p.Thr115Ile)
NM_001814.6(CTSC):c.353G>A (p.Cys118Tyr)
NM_001814.6(CTSC):c.353G>T (p.Cys118Phe)
NM_001814.6(CTSC):c.358G>A (p.Glu120Lys)
NM_001814.6(CTSC):c.364A>G (p.Met122Val)
NM_001814.6(CTSC):c.37C>A (p.Leu13Met)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.427G>C (p.Gly143Arg)
NM_001814.6(CTSC):c.434C>G (p.Ala145Gly)
NM_001814.6(CTSC):c.43C>T (p.Leu15Phe)
NM_001814.6(CTSC):c.449A>G (p.Tyr150Cys)
NM_001814.6(CTSC):c.4G>C (p.Gly2Arg)
NM_001814.6(CTSC):c.505A>G (p.Lys169Glu)
NM_001814.6(CTSC):c.53G>A (p.Gly18Asp)
NM_001814.6(CTSC):c.550T>C (p.Ser184Pro)
NM_001814.6(CTSC):c.562A>G (p.Thr188Ala)
NM_001814.6(CTSC):c.566C>T (p.Thr189Ile)
NM_001814.6(CTSC):c.574G>C (p.Glu192Gln)
NM_001814.6(CTSC):c.593T>A (p.Leu198Gln)
NM_001814.6(CTSC):c.615T>G (p.Ser205Arg)
NM_001814.6(CTSC):c.625A>C (p.Ser209Arg)
NM_001814.6(CTSC):c.629G>A (p.Arg210Gln)
NM_001814.6(CTSC):c.641+3A>G
NM_001814.6(CTSC):c.662CTG[1] (p.Ala222del)
NM_001814.6(CTSC):c.693G>C (p.Leu231Phe)
NM_001814.6(CTSC):c.719T>G (p.Val240Gly)
NM_001814.6(CTSC):c.71G>A (p.Cys24Tyr)
NM_001814.6(CTSC):c.757+3A>G
NM_001814.6(CTSC):c.757+5A>G
NM_001814.6(CTSC):c.757G>A (p.Ala253Thr)
NM_001814.6(CTSC):c.758-16T>G
NM_001814.6(CTSC):c.758-7T>A
NM_001814.6(CTSC):c.769A>G (p.Ser257Gly)
NM_001814.6(CTSC):c.790A>C (p.Met264Leu)
NM_001814.6(CTSC):c.790A>G (p.Met264Val)
NM_001814.6(CTSC):c.796A>G (p.Met266Val)
NM_001814.6(CTSC):c.806C>T (p.Ala269Val)
NM_001814.6(CTSC):c.830A>G (p.Asn277Ser)
NM_001814.6(CTSC):c.839C>T (p.Thr280Ile)
NM_001814.6(CTSC):c.844A>G (p.Ile282Val)
NM_001814.6(CTSC):c.848T>C (p.Leu283Pro)
NM_001814.6(CTSC):c.872G>C (p.Cys291Ser)
NM_001814.6(CTSC):c.881A>G (p.Tyr294Cys)
NM_001814.6(CTSC):c.890G>T (p.Gly297Val)
NM_001814.6(CTSC):c.893G>A (p.Cys298Tyr)
NM_001814.6(CTSC):c.907C>T (p.Pro303Ser)
NM_001814.6(CTSC):c.908C>T (p.Pro303Leu)
NM_001814.6(CTSC):c.917T>C (p.Ile306Thr)
NM_001814.6(CTSC):c.919G>A (p.Ala307Thr)
NM_001814.6(CTSC):c.921A>G (p.Ala307=)
NM_001814.6(CTSC):c.923G>A (p.Gly308Glu)
NM_001814.6(CTSC):c.931G>A (p.Ala311Thr)
NM_001814.6(CTSC):c.946C>G (p.Leu316Val)
NM_001814.6(CTSC):c.94T>C (p.Tyr32His)
NM_001814.6(CTSC):c.950T>G (p.Val317Gly)
NM_001814.6(CTSC):c.952G>A (p.Glu318Lys)
NM_001814.6(CTSC):c.953A>G (p.Glu318Gly)
NM_001814.6(CTSC):c.95A>G (p.Tyr32Cys)
NM_001814.6(CTSC):c.979A>C (p.Thr327Pro)
NM_001814.6(CTSC):c.998T>C (p.Met333Thr)
NM_020751.3(COG6):c.1036G>A (p.Val346Ile) rs1876874289
NM_020751.3(COG6):c.1043A>G (p.His348Arg) rs2138012022
NM_020751.3(COG6):c.1105C>T (p.Pro369Ser)
NM_020751.3(COG6):c.1286T>C (p.Val429Ala)
NM_020751.3(COG6):c.1426T>C (p.Cys476Arg)
NM_020751.3(COG6):c.172A>G (p.Lys58Glu)
NM_020751.3(COG6):c.1826+3A>C rs768907183
NM_020751.3(COG6):c.1883A>G (p.Tyr628Cys)
NM_020751.3(COG6):c.1910A>C (p.Glu637Ala) rs1284095057
NM_020751.3(COG6):c.1941_1944del (p.Ser648fs)
NM_020751.3(COG6):c.203G>A (p.Ser68Asn)
NM_020751.3(COG6):c.26T>A (p.Val9Asp) rs2137932050
NM_020751.3(COG6):c.299A>T (p.Glu100Val) rs866336771
NM_020751.3(COG6):c.535A>G (p.Thr179Ala) rs1322763277
NM_020751.3(COG6):c.53A>G (p.Asn18Ser) rs2137932213
NM_020751.3(COG6):c.695G>A (p.Ser232Asn) rs780879386
NM_020751.3(COG6):c.70G>T (p.Ala24Ser) rs539907116
NM_020751.3(COG6):c.739G>A (p.Val247Ile)
NM_020751.3(COG6):c.766C>A (p.Gln256Lys)
NM_020751.3(COG6):c.788+5G>A
NM_020751.3(COG6):c.80C>G (p.Thr27Ser) rs776763438
NM_020751.3(COG6):c.851C>T (p.Ala284Val) rs148869108
NM_020751.3(COG6):c.871G>A (p.Gly291Arg)
NM_020751.3(COG6):c.956C>T (p.Thr319Ile) rs1428739783
NM_020751.3(COG6):c.989T>C (p.Leu330Ser) rs1876747862
NM_020751.3(COG6):c.9G>C (p.Glu3Asp) rs1016478271
NM_025216.3(WNT10A):c.1034T>C (p.Phe345Ser) rs1553623335
NM_025216.3(WNT10A):c.1036T>C (p.Cys346Arg)
NM_025216.3(WNT10A):c.1040A>C (p.Glu347Ala)
NM_025216.3(WNT10A):c.1085G>T (p.Cys362Phe) rs1575235098
NM_025216.3(WNT10A):c.1120_1134dup (p.Gly378_Arg379insSerMetCysCysGly)
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg) rs773598047
NM_025216.3(WNT10A):c.1127G>C (p.Cys376Ser)
NM_025216.3(WNT10A):c.1154G>A (p.Arg385His)
NM_025216.3(WNT10A):c.1199G>C (p.Cys400Ser) rs1575235227
NM_025216.3(WNT10A):c.1204G>A (p.Val402Met)
NM_025216.3(WNT10A):c.1212C>G (p.Cys404Trp) rs1553623396
NM_025216.3(WNT10A):c.1223G>A (p.Arg408His)
NM_025216.3(WNT10A):c.1247G>C (p.Cys416Ser)
NM_025216.3(WNT10A):c.152C>T (p.Pro51Leu)
NM_025216.3(WNT10A):c.275C>T (p.Ala92Val) rs1553622317
NM_025216.3(WNT10A):c.323C>T (p.Ser108Leu) rs2106011706
NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe) rs201929547
NM_025216.3(WNT10A):c.38G>C (p.Arg13Pro)
NM_025216.3(WNT10A):c.434T>C (p.Val145Ala)
NM_025216.3(WNT10A):c.542C>T (p.Ala181Val)
NM_025216.3(WNT10A):c.554G>A (p.Gly185Asp) rs1458852116
NM_025216.3(WNT10A):c.59C>A (p.Pro20Gln)
NM_025216.3(WNT10A):c.623C>T (p.Ser208Phe) rs756543596
NM_025216.3(WNT10A):c.640T>C (p.Cys214Arg)
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys) rs149245953
NM_025216.3(WNT10A):c.775C>T (p.Arg259Trp)
NM_025216.3(WNT10A):c.791G>T (p.Cys264Phe) rs1944669118
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser) rs778752861
NM_025216.3(WNT10A):c.914G>T (p.Arg305Leu) rs746769946
NM_025216.3(WNT10A):c.919G>C (p.Gly307Arg)
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup) rs1416466883

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