ClinVar Miner

List of variants in gene combination SPATA22, TRPV3 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:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
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

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