ClinVar Miner

List of variants in gene 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: 23
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HGVS dbSNP
NM_145068.3(TRPV3):c.-177C>T rs886052858
NM_145068.3(TRPV3):c.-220G>A rs773689429
NM_145068.3(TRPV3):c.-234C>T rs568432604
NM_145068.3(TRPV3):c.-245G>A rs886052859
NM_145068.3(TRPV3):c.-313C>T rs540741805
NM_145068.3(TRPV3):c.-318A>G rs112731342
NM_145068.4(TRPV3):c.*32C>T rs368105861
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.1236C>T (p.Asn412=) rs141578451
NM_145068.4(TRPV3):c.1243-4C>T rs886052856
NM_145068.4(TRPV3):c.1503+15C>T rs369415284
NM_145068.4(TRPV3):c.1622T>C (p.Leu541Ser) rs764913664
NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) rs746336365
NM_145068.4(TRPV3):c.2011A>G (p.Asn671Asp) rs886052855
NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) rs779977306
NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) rs760726969
NM_145068.4(TRPV3):c.501G>A (p.Thr167=) rs780723914
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.881C>A (p.Ser294Ter) rs1085307103
NM_145068.4(TRPV3):c.956G>A (p.Arg319His) rs151284467

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