ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Baylor Genetics

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Total variants: 12
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NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter) rs765476745
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter) rs1358947010
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)
NM_206933.4(USH2A):c.532dup (p.Thr178fs) rs1571801788

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