ClinVar Miner

List of variants reported as 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: 65
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HGVS dbSNP
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338
NM_004004.5(GJB2):c.*1447G>A rs11839674
NM_004004.6(GJB2):c.*104A>T rs7337074
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004004.6(GJB2):c.*111C>T rs7329857
NM_004004.6(GJB2):c.*1152G>A rs7623
NM_004004.6(GJB2):c.*1197T>A rs11841182
NM_004004.6(GJB2):c.*1277T>C rs7988691
NM_004004.6(GJB2):c.*168A>G rs55704559
NM_004004.6(GJB2):c.*84T>C rs3751385
NM_004004.6(GJB2):c.*931C>T rs5030700
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_024009.3(GJB3):c.*369G>C rs2236214
NM_024009.3(GJB3):c.*43C>A rs41266429
NM_024009.3(GJB3):c.*493C>T rs13774
NM_024009.3(GJB3):c.*53G>A rs476220
NM_024009.3(GJB3):c.*559G>C rs9118
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826
NM_145068.3(TRPV3):c.-142G>C rs11870904
NM_145068.3(TRPV3):c.-190G>A rs322959
NM_145068.3(TRPV3):c.-269A>G rs322958
NM_145068.4(TRPV3):c.*1039T>C rs10852860
NM_145068.4(TRPV3):c.*1229G>C rs1507615
NM_145068.4(TRPV3):c.*1533A>C rs1507614
NM_145068.4(TRPV3):c.*1565T>C rs9303177
NM_145068.4(TRPV3):c.*1590T>C rs5818898
NM_145068.4(TRPV3):c.*1591del rs57868197
NM_145068.4(TRPV3):c.*1841C>A rs2087892
NM_145068.4(TRPV3):c.*2087T>G rs115011025
NM_145068.4(TRPV3):c.*2093C>T rs9912448
NM_145068.4(TRPV3):c.*2115G>A rs4790505
NM_145068.4(TRPV3):c.*2272T>C rs4790504
NM_145068.4(TRPV3):c.*2352G>A rs4790503
NM_145068.4(TRPV3):c.*2437A>G rs4790502
NM_145068.4(TRPV3):c.*3051A>G rs2271158
NM_145068.4(TRPV3):c.*3076A>C rs9913028
NM_145068.4(TRPV3):c.*3154C>T rs2271156
NM_145068.4(TRPV3):c.*64_*65TG[1] rs10573788
NM_145068.4(TRPV3):c.*656G>T rs7208811
NM_145068.4(TRPV3):c.*88G>A rs906418
NM_145068.4(TRPV3):c.*902T>G rs7209047
NM_145068.4(TRPV3):c.*940G>A rs10852861
NM_145068.4(TRPV3):c.*949T>A rs55875649
NM_145068.4(TRPV3):c.1419G>C (p.Leu473Phe) rs56169438
NM_145068.4(TRPV3):c.1435A>T (p.Met479Leu) rs114131791
NM_145068.4(TRPV3):c.1503+13C>G rs141061726
NM_145068.4(TRPV3):c.1878C>T (p.Ser626=) rs12946883
NM_145068.4(TRPV3):c.1882G>A (p.Ala628Thr) rs75319568
NM_145068.4(TRPV3):c.1923C>T (p.Asp641=) rs7216486
NM_145068.4(TRPV3):c.270G>A (p.Gln90=) rs1039519
NM_145068.4(TRPV3):c.349A>G (p.Arg117Gly) rs322937
NM_145068.4(TRPV3):c.394G>A (p.Val132Met) rs8066242
NM_145068.4(TRPV3):c.558A>C (p.Ile186=) rs11078458
NM_145068.4(TRPV3):c.592G>A (p.Asp198Asn) rs78615718
NM_145068.4(TRPV3):c.73A>G (p.Ile25Val) rs322965
NM_145068.4(TRPV3):c.807A>G (p.Ala269=) rs75487373
NM_145068.4(TRPV3):c.936G>A (p.Thr312=) rs395357

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