ClinVar Miner

List of variants in gene USH2A reported as pathogenic for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.14698C>T (p.Gln4900Ter) rs1553250072
NM_206933.3(USH2A):c.99_100insT (p.Arg34fs) rs141672841
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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