ClinVar Miner

List of variants in gene GJB3 studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)
NM_024009.3(GJB3):c.421A>G (p.Ile141Val) rs74315320
NM_024009.3(GJB3):c.421_423del (p.Ile141del) rs770247378
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) rs74315319
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr) rs138304650
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) rs1557659237

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