ClinVar Miner

List of variants in gene GJB3 studied for Autosomal recessive nonsyndromic hearing loss 1A

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024009.3(GJB3):c.667C>A (p.Pro223Thr)	rs373815705	0.00017
NM_024009.3(GJB3):c.586G>A (p.Ala196Thr)	rs138304650	0.00002
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	rs1557659237

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