ClinVar Miner

List of variants reported as likely benign 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: 91
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HGVS dbSNP
NM_001110219.3(GJB6):c.*301G>C rs112723181
NM_001110219.3(GJB6):c.*337G>T rs7333214
NM_001110219.3(GJB6):c.-105T>A rs114639494
NM_001110219.3(GJB6):c.-295-219G>A rs7333727
NM_004004.6(GJB2):c.*1016A>G rs537683957
NM_004004.6(GJB2):c.*1033G>A rs185790172
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.*3C>A rs111033460
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*786G>A rs187158699
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.-6T>A rs148136545
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_024009.3(GJB3):c.*218C>A rs78145978
NM_024009.3(GJB3):c.*231G>A rs72898302
NM_024009.3(GJB3):c.*429G>A rs545843697
NM_024009.3(GJB3):c.*434G>A rs567318744
NM_024009.3(GJB3):c.*626C>G rs74567877
NM_024009.3(GJB3):c.-399G>A rs141275770
NM_024009.3(GJB3):c.-407C>T rs547065589
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606
NM_145068.3(TRPV3):c.-226G>C rs187117947
NM_145068.3(TRPV3):c.-279T>C rs552876200
NM_145068.4(TRPV3):c.*1083A>C rs144909742
NM_145068.4(TRPV3):c.*1100T>A rs558730764
NM_145068.4(TRPV3):c.*1424G>A rs73977750
NM_145068.4(TRPV3):c.*1621del rs200084165
NM_145068.4(TRPV3):c.*1790G>C rs76456640
NM_145068.4(TRPV3):c.*2014A>T rs79031278
NM_145068.4(TRPV3):c.*2054A>T rs554529243
NM_145068.4(TRPV3):c.*2068A>G rs143685899
NM_145068.4(TRPV3):c.*2072A>C rs575890184
NM_145068.4(TRPV3):c.*2094G>A rs59731070
NM_145068.4(TRPV3):c.*2153A>G rs545225352
NM_145068.4(TRPV3):c.*2169C>A rs147868324
NM_145068.4(TRPV3):c.*25dup rs575765196
NM_145068.4(TRPV3):c.*2611G>A rs147744836
NM_145068.4(TRPV3):c.*2729A>G rs118043532
NM_145068.4(TRPV3):c.*2783G>A rs182187548
NM_145068.4(TRPV3):c.*279G>C rs544410561
NM_145068.4(TRPV3):c.*2808C>T rs190136323
NM_145068.4(TRPV3):c.*3149T>C rs2271157
NM_145068.4(TRPV3):c.*3196T>C rs188531155
NM_145068.4(TRPV3):c.*3255G>A rs117019701
NM_145068.4(TRPV3):c.*3307G>A rs17822789
NM_145068.4(TRPV3):c.*56dup rs559927242
NM_145068.4(TRPV3):c.*576A>T rs138748634
NM_145068.4(TRPV3):c.*58C>T rs188455894
NM_145068.4(TRPV3):c.*63C>G rs545886104
NM_145068.4(TRPV3):c.*84G>A rs146188912
NM_145068.4(TRPV3):c.-2-8T>C rs762080322
NM_145068.4(TRPV3):c.1044C>T (p.Ala348=) rs139733808
NM_145068.4(TRPV3):c.1050G>A (p.Lys350=) rs141575082
NM_145068.4(TRPV3):c.1083C>T (p.Leu361=) rs193231694
NM_145068.4(TRPV3):c.1105C>T (p.Arg369Trp) rs116535534
NM_145068.4(TRPV3):c.119+10G>A rs182566183
NM_145068.4(TRPV3):c.1258C>T (p.Leu420=) rs199598561
NM_145068.4(TRPV3):c.1401+9G>T rs550564945
NM_145068.4(TRPV3):c.1504-15C>T rs200955758
NM_145068.4(TRPV3):c.1654G>A (p.Val552Met) rs150743616
NM_145068.4(TRPV3):c.1698G>A (p.Thr566=) rs113716355
NM_145068.4(TRPV3):c.2034C>T (p.Gly678=) rs201663049
NM_145068.4(TRPV3):c.224+8C>T rs113563330
NM_145068.4(TRPV3):c.2278+10C>T rs112791047
NM_145068.4(TRPV3):c.2279-15T>A rs72809877
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) rs7212634
NM_145068.4(TRPV3):c.2331T>C (p.Asn777=) rs74362949
NM_145068.4(TRPV3):c.2358G>T (p.Pro786=) rs75372730
NM_145068.4(TRPV3):c.395T>C (p.Val132Ala) rs139870087
NM_145068.4(TRPV3):c.489G>A (p.Thr163=) rs771432151
NM_145068.4(TRPV3):c.72C>T (p.Ala24=) rs116068630
NM_145068.4(TRPV3):c.958A>G (p.Met320Val) rs142326624
NM_145068.4(TRPV3):c.95C>G (p.Ala32Gly) rs115770751

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