ClinVar Miner

List of variants in gene 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: 17
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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.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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