ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Total variants: 12
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NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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