ClinVar Miner

List of variants in gene combination SPATA22, TRPV3 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:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
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.*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.*576A>T rs138748634
NM_145068.4(TRPV3):c.*84G>A rs146188912

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