ClinVar Miner

List of variants in gene GJB3 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: 51
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HGVS dbSNP
NM_024009.2(GJB3):c.-606T>C rs538085084
NM_024009.3(GJB3):c.*120C>T rs1057515479
NM_024009.3(GJB3):c.*191C>T rs541330173
NM_024009.3(GJB3):c.*218C>A rs78145978
NM_024009.3(GJB3):c.*231G>A rs72898302
NM_024009.3(GJB3):c.*306C>T rs1015503523
NM_024009.3(GJB3):c.*369G>C rs2236214
NM_024009.3(GJB3):c.*429G>A rs545843697
NM_024009.3(GJB3):c.*434G>A rs567318744
NM_024009.3(GJB3):c.*43C>A rs41266429
NM_024009.3(GJB3):c.*493C>T rs13774
NM_024009.3(GJB3):c.*532del rs935438706
NM_024009.3(GJB3):c.*53G>A rs476220
NM_024009.3(GJB3):c.*541G>A rs1057515516
NM_024009.3(GJB3):c.*559G>C rs9118
NM_024009.3(GJB3):c.*626C>G rs74567877
NM_024009.3(GJB3):c.*75del rs1057515478
NM_024009.3(GJB3):c.*80G>C rs779242382
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.-159T>C rs987840683
NM_024009.3(GJB3):c.-177G>A rs1057515477
NM_024009.3(GJB3):c.-18C>T rs371413520
NM_024009.3(GJB3):c.-231G>A rs1057515551
NM_024009.3(GJB3):c.-307T>C rs764352147
NM_024009.3(GJB3):c.-383G>A rs1057515476
NM_024009.3(GJB3):c.-398C>G rs1057515443
NM_024009.3(GJB3):c.-399G>A rs141275770
NM_024009.3(GJB3):c.-407C>T rs547065589
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.165C>T (p.Thr55=) rs779347602
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser) rs74315317
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg) rs74315315
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) rs74315316
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.491G>A (p.Cys164Tyr) rs756737667
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826

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