ClinVar Miner

List of variants in gene 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_145068.3(TRPV3):c.-142G>C rs11870904
NM_145068.3(TRPV3):c.-177C>T rs886052858
NM_145068.3(TRPV3):c.-190G>A rs322959
NM_145068.3(TRPV3):c.-220G>A rs773689429
NM_145068.3(TRPV3):c.-226G>C rs187117947
NM_145068.3(TRPV3):c.-234C>T rs568432604
NM_145068.3(TRPV3):c.-245G>A rs886052859
NM_145068.3(TRPV3):c.-269A>G rs322958
NM_145068.3(TRPV3):c.-279T>C rs552876200
NM_145068.3(TRPV3):c.-313C>T rs540741805
NM_145068.3(TRPV3):c.-318A>G rs112731342
NM_145068.4(TRPV3):c.*25dup rs575765196
NM_145068.4(TRPV3):c.*32C>T rs368105861
NM_145068.4(TRPV3):c.*56dup rs559927242
NM_145068.4(TRPV3):c.*58C>T rs188455894
NM_145068.4(TRPV3):c.*63C>G rs545886104
NM_145068.4(TRPV3):c.-2-8T>C rs762080322
NM_145068.4(TRPV3):c.1044C>T (p.Ala348=) rs139733808
NM_145068.4(TRPV3):c.1050G>A (p.Lys350=) rs141575082
NM_145068.4(TRPV3):c.1063G>A (p.Glu355Lys) rs747712652
NM_145068.4(TRPV3):c.1066-5C>G rs778105648
NM_145068.4(TRPV3):c.1078A>C (p.Ile360Leu) rs767689187
NM_145068.4(TRPV3):c.1083C>T (p.Leu361=) rs193231694
NM_145068.4(TRPV3):c.1105C>T (p.Arg369Trp) rs116535534
NM_145068.4(TRPV3):c.119+10G>A rs182566183
NM_145068.4(TRPV3):c.1236C>T (p.Asn412=) rs141578451
NM_145068.4(TRPV3):c.1243-4C>T rs886052856
NM_145068.4(TRPV3):c.1258C>T (p.Leu420=) rs199598561
NM_145068.4(TRPV3):c.1401+9G>T rs550564945
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.1503+15C>T rs369415284
NM_145068.4(TRPV3):c.1504-15C>T rs200955758
NM_145068.4(TRPV3):c.1622T>C (p.Leu541Ser) rs764913664
NM_145068.4(TRPV3):c.1654G>A (p.Val552Met) rs150743616
NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) rs746336365
NM_145068.4(TRPV3):c.1698G>A (p.Thr566=) rs113716355
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val)
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) rs199473704
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) rs199473704
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.2011A>G (p.Asn671Asp) rs886052855
NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) rs786205868
NM_145068.4(TRPV3):c.2034C>T (p.Gly678=) rs201663049
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) rs199473705
NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) rs779977306
NM_145068.4(TRPV3):c.224+8C>T rs113563330
NM_145068.4(TRPV3):c.2278+10C>T rs112791047
NM_145068.4(TRPV3):c.2279-15T>A rs72809877
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) rs7212634
NM_145068.4(TRPV3):c.2331T>C (p.Asn777=) rs74362949
NM_145068.4(TRPV3):c.2358G>T (p.Pro786=) rs75372730
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.395T>C (p.Val132Ala) rs139870087
NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) rs760726969
NM_145068.4(TRPV3):c.489G>A (p.Thr163=) rs771432151
NM_145068.4(TRPV3):c.501G>A (p.Thr167=) rs780723914
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.615C>T (p.Asn205=) rs372599650
NM_145068.4(TRPV3):c.6A>C (p.Lys2Asn) rs886052857
NM_145068.4(TRPV3):c.72C>T (p.Ala24=) rs116068630
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.881C>A (p.Ser294Ter) rs1085307103
NM_145068.4(TRPV3):c.936G>A (p.Thr312=) rs395357
NM_145068.4(TRPV3):c.956G>A (p.Arg319His) rs151284467
NM_145068.4(TRPV3):c.958A>G (p.Met320Val) rs142326624
NM_145068.4(TRPV3):c.95C>G (p.Ala32Gly) rs115770751

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