ClinVar Miner

List of variants studied for Usher syndrome, type 2A by Human Genetics - Radboudumc,Radboudumc

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Total variants: 7
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HGVS dbSNP
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu)
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555

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