ClinVar Miner

List of variants reported as pathogenic for Usher syndrome, type 2A by Counsyl

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Total variants: 5
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HGVS dbSNP
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043

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