ClinVar Miner

List of variants in gene 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: 29
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HGVS dbSNP
NM_145068.3(TRPV3):c.-226G>C rs187117947
NM_145068.3(TRPV3):c.-279T>C rs552876200
NM_145068.4(TRPV3):c.*25dup rs575765196
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.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.1258C>T (p.Leu420=) rs199598561
NM_145068.4(TRPV3):c.1401+9G>T rs550564945
NM_145068.4(TRPV3):c.1504-15C>T rs200955758
NM_145068.4(TRPV3):c.1654G>A (p.Val552Met) rs150743616
NM_145068.4(TRPV3):c.1698G>A (p.Thr566=) rs113716355
NM_145068.4(TRPV3):c.2034C>T (p.Gly678=) rs201663049
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.395T>C (p.Val132Ala) rs139870087
NM_145068.4(TRPV3):c.489G>A (p.Thr163=) rs771432151
NM_145068.4(TRPV3):c.72C>T (p.Ala24=) rs116068630
NM_145068.4(TRPV3):c.958A>G (p.Met320Val) rs142326624
NM_145068.4(TRPV3):c.95C>G (p.Ala32Gly) rs115770751

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