ClinVar Miner

List of variants in gene GJB3 reported as 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: 11
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HGVS dbSNP
NM_024009.3(GJB3):c.*369G>C rs2236214
NM_024009.3(GJB3):c.*43C>A rs41266429
NM_024009.3(GJB3):c.*493C>T rs13774
NM_024009.3(GJB3):c.*53G>A rs476220
NM_024009.3(GJB3):c.*559G>C rs9118
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826

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