ClinVar Miner

List of variants studied for Deafness, autosomal dominant 20 by Nilou-Genome Lab

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Total variants: 6
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HGVS dbSNP
NM_001614.5(ACTG1):c.-6-83T>G
NM_001614.5(ACTG1):c.363+13C>A rs9910792
NM_001614.5(ACTG1):c.363+58G>A rs9912409
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989
NM_001614.5(ACTG1):c.985-40del rs59886367

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