ClinVar Miner

List of variants in gene GJB3 reported as uncertain significance for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_024009.3(GJB3):c.*429G>A rs545843697 0.00061
NM_024009.3(GJB3):c.*306C>T rs1015503523 0.00041
NM_024009.2(GJB3):c.-606T>C rs538085084 0.00031
NM_024009.3(GJB3):c.*80G>C rs779242382 0.00016
NM_024009.3(GJB3):c.-399G>A rs141275770 0.00016
NM_024009.3(GJB3):c.79G>A (p.Val27Met) rs775072109 0.00014
NM_024009.3(GJB3):c.-159T>C rs987840683 0.00013
NM_024009.3(GJB3):c.-177G>A rs1057515477 0.00011
NM_024009.3(GJB3):c.*670C>A rs1004646950 0.00008
NM_024009.3(GJB3):c.*191C>T rs541330173 0.00006
NM_024009.3(GJB3):c.*75del rs1057515478 0.00006
NM_024009.3(GJB3):c.-307T>C rs764352147 0.00004
NM_024009.3(GJB3):c.-477T>C rs1047993530 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024009.3(GJB3):c.-231G>A rs1057515551 0.00003
NM_024009.3(GJB3):c.*370C>A rs1173323239 0.00001
NM_024009.3(GJB3):c.-150C>T rs910647846 0.00001
NM_024009.3(GJB3):c.126C>T (p.Arg42=) rs776320459 0.00001
NM_024009.3(GJB3):c.249C>T (p.Phe83=) rs1640079217 0.00001
NM_024009.3(GJB3):c.347T>G (p.Leu116Arg) rs144085767 0.00001
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*172G>A rs1640104946
NM_024009.3(GJB3):c.*481C>T rs1640110951
NM_024009.3(GJB3):c.*532del rs935438706
NM_024009.3(GJB3):c.*541G>A rs1057515516
NM_024009.3(GJB3):c.-285C>A rs1640008053
NM_024009.3(GJB3):c.-293C>G rs1640007942
NM_024009.3(GJB3):c.-383G>A rs1057515476
NM_024009.3(GJB3):c.-398C>G rs1057515443
NM_024009.3(GJB3):c.-480G>C rs1326117272
NM_024009.3(GJB3):c.-70C>T rs1640012751
NM_024009.3(GJB3):c.-93C>T rs1057515515
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024009.3(GJB3):c.371A>G (p.His124Arg)
NM_024009.3(GJB3):c.379C>T (p.Leu127=) rs1640085400
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667

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