ClinVar Miner

List of variants in gene USH2A reported by Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center

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Total variants: 15
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HGVS dbSNP
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu)
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val)
NM_206933.4(USH2A):c.1270A>T (p.Met424Leu)
NM_206933.4(USH2A):c.14396C>T (p.Thr4799Ile)
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg)
NM_206933.4(USH2A):c.5320T>A (p.Leu1774Met)
NM_206933.4(USH2A):c.5776+1G>A rs876657731
NM_206933.4(USH2A):c.5919G>A (p.Val1973=)
NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser)
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala)

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