ClinVar Miner

List of variants in gene SPATA22, TRPV3 studied 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:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_145068.4(TRPV3):c.*1039T>C rs10852860
NM_145068.4(TRPV3):c.*1083A>C rs144909742
NM_145068.4(TRPV3):c.*1100T>A rs558730764
NM_145068.4(TRPV3):c.*1110_*1111TG[1] rs886052849
NM_145068.4(TRPV3):c.*1218G>A rs886052848
NM_145068.4(TRPV3):c.*1229G>C rs1507615
NM_145068.4(TRPV3):c.*132G>C rs745761873
NM_145068.4(TRPV3):c.*1424G>A rs73977750
NM_145068.4(TRPV3):c.*1485G>A rs542568031
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.*1590del rs869218825
NM_145068.4(TRPV3):c.*1591G>C rs5010536
NM_145068.4(TRPV3):c.*1591_*1592insC rs112072753
NM_145068.4(TRPV3):c.*1591del rs57868197
NM_145068.4(TRPV3):c.*1621del rs200084165
NM_145068.4(TRPV3):c.*1625C>G rs886052847
NM_145068.4(TRPV3):c.*1669G>A rs886052846
NM_145068.4(TRPV3):c.*1790G>C rs76456640
NM_145068.4(TRPV3):c.*1841C>A rs2087892
NM_145068.4(TRPV3):c.*1940T>G rs886052845
NM_145068.4(TRPV3):c.*2014A>T rs79031278
NM_145068.4(TRPV3):c.*2019A>G rs753994797
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.*2087T>G rs115011025
NM_145068.4(TRPV3):c.*2093C>T rs9912448
NM_145068.4(TRPV3):c.*2094G>A rs59731070
NM_145068.4(TRPV3):c.*2115G>A rs4790505
NM_145068.4(TRPV3):c.*2153A>G rs545225352
NM_145068.4(TRPV3):c.*2169C>A rs147868324
NM_145068.4(TRPV3):c.*2272T>C rs4790504
NM_145068.4(TRPV3):c.*2296T>C rs886052844
NM_145068.4(TRPV3):c.*2352G>A rs4790503
NM_145068.4(TRPV3):c.*2365T>C rs886052843
NM_145068.4(TRPV3):c.*2437A>G rs4790502
NM_145068.4(TRPV3):c.*2490T>C rs886052842
NM_145068.4(TRPV3):c.*2611G>A rs147744836
NM_145068.4(TRPV3):c.*2622G>T rs886052841
NM_145068.4(TRPV3):c.*2671C>T rs886052840
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.*2895C>G rs886052839
NM_145068.4(TRPV3):c.*3045G>T rs773007859
NM_145068.4(TRPV3):c.*3051A>G rs2271158
NM_145068.4(TRPV3):c.*3076A>C rs9913028
NM_145068.4(TRPV3):c.*3148G>A rs886052838
NM_145068.4(TRPV3):c.*3149T>C rs2271157
NM_145068.4(TRPV3):c.*3154C>T rs2271156
NM_145068.4(TRPV3):c.*3196T>C rs188531155
NM_145068.4(TRPV3):c.*3255G>A rs117019701
NM_145068.4(TRPV3):c.*3295G>C rs886052837
NM_145068.4(TRPV3):c.*3302_*3303TG[5] rs886052836
NM_145068.4(TRPV3):c.*3307G>A rs17822789
NM_145068.4(TRPV3):c.*3340C>G rs886052835
NM_145068.4(TRPV3):c.*576A>T rs138748634
NM_145068.4(TRPV3):c.*631A>G rs886052851
NM_145068.4(TRPV3):c.*64_*65TG[1] rs10573788
NM_145068.4(TRPV3):c.*656G>T rs7208811
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.*84G>A rs146188912
NM_145068.4(TRPV3):c.*85A>G rs886052853
NM_145068.4(TRPV3):c.*88G>A rs906418
NM_145068.4(TRPV3):c.*902T>G rs7209047
NM_145068.4(TRPV3):c.*92A>C rs886052852
NM_145068.4(TRPV3):c.*940G>A rs10852861
NM_145068.4(TRPV3):c.*949T>A rs55875649

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