ClinVar Miner

List of variants in gene combination SPATA22, TRPV3 reported as uncertain significance 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: 29
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HGVS dbSNP
NM_145068.4(TRPV3):c.*1110_*1111TG[1] rs886052849
NM_145068.4(TRPV3):c.*1218G>A rs886052848
NM_145068.4(TRPV3):c.*132G>C rs745761873
NM_145068.4(TRPV3):c.*1485G>A rs542568031
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.*1625C>G rs886052847
NM_145068.4(TRPV3):c.*1669G>A rs886052846
NM_145068.4(TRPV3):c.*1940T>G rs886052845
NM_145068.4(TRPV3):c.*2019A>G rs753994797
NM_145068.4(TRPV3):c.*2296T>C rs886052844
NM_145068.4(TRPV3):c.*2365T>C rs886052843
NM_145068.4(TRPV3):c.*2490T>C rs886052842
NM_145068.4(TRPV3):c.*2622G>T rs886052841
NM_145068.4(TRPV3):c.*2671C>T rs886052840
NM_145068.4(TRPV3):c.*2895C>G rs886052839
NM_145068.4(TRPV3):c.*3045G>T rs773007859
NM_145068.4(TRPV3):c.*3148G>A rs886052838
NM_145068.4(TRPV3):c.*3295G>C rs886052837
NM_145068.4(TRPV3):c.*3302_*3303TG[5] rs886052836
NM_145068.4(TRPV3):c.*3340C>G rs886052835
NM_145068.4(TRPV3):c.*631A>G rs886052851
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.*85A>G rs886052853
NM_145068.4(TRPV3):c.*92A>C rs886052852

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