ClinVar Miner

List of variants in gene GJB3 studied for diffuse palmoplantar keratoderma

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_024009.3(GJB3):c.*53G>A rs476220 0.49114
NM_024009.3(GJB3):c.*369G>C rs2236214 0.23276
NM_024009.3(GJB3):c.*559G>C rs9118 0.19529
NM_024009.3(GJB3):c.*43C>A rs41266429 0.11622
NM_024009.3(GJB3):c.*493C>T rs13774 0.09992
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_024009.3(GJB3):c.*231G>A rs72898302 0.01235
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_024009.3(GJB3):c.*626C>G rs74567877 0.00575
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_024009.3(GJB3):c.*218C>A rs78145978 0.00481
NM_024009.3(GJB3):c.-407C>T rs547065589 0.00364
NM_024009.3(GJB3):c.*429G>A rs545843697 0.00061
NM_024009.3(GJB3):c.*306C>T rs1015503523 0.00041
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720 0.00034
NM_024009.2(GJB3):c.-606T>C rs538085084 0.00031
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_024009.3(GJB3):c.*13G>A rs368929234 0.00020
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_024009.3(GJB3):c.*434G>A rs567318744 0.00018
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.316C>T (p.Arg106Cys) rs147106166 0.00014
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.250G>A (p.Val84Ile) rs145751680 0.00013
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_024009.3(GJB3):c.-177G>A rs1057515477 0.00011
NM_024009.3(GJB3):c.-40G>A rs559520550 0.00010
NM_024009.3(GJB3):c.*670C>A rs1004646950 0.00008
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_024009.3(GJB3):c.*191C>T rs541330173 0.00006
NM_024009.3(GJB3):c.*75del rs1057515478 0.00006
NM_024009.3(GJB3):c.293G>A (p.Arg98His) rs201314683 0.00006
NM_024009.3(GJB3):c.-18C>T rs371413520 0.00004
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.61G>A (p.Gly21Arg) rs749654470 0.00004
NM_024009.3(GJB3):c.647G>A (p.Arg216Gln) rs751280813 0.00004
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331 0.00004
NM_024009.3(GJB3):c.-231G>A rs1057515551 0.00003
NM_024009.3(GJB3):c.186C>T (p.Asn62=) rs373186826 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.-3G>A rs200397530 0.00001
NM_024009.3(GJB3):c.126C>T (p.Arg42=) rs776320459 0.00001
NM_024009.3(GJB3):c.165C>T (p.Thr55=) rs779347602 0.00001
NM_024009.3(GJB3):c.249C>T (p.Phe83=) rs1640079217 0.00001
NM_024009.3(GJB3):c.317G>A (p.Arg106His) rs369979083 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.-141C>G rs113824402
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.101T>C (p.Leu34Pro) rs28937583
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro) rs74315321
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser) rs74315317
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg) rs74315315
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) rs74315316
NM_024009.3(GJB3):c.371A>G (p.His124Arg)
NM_024009.3(GJB3):c.379C>T (p.Leu127=) rs1640085400
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667

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