ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 21
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter) rs756623509
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8240del (p.Pro2747fs) rs1553272201
NM_206933.3(USH2A):c.9056-2A>G rs754970095
NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter) rs111033418
NM_206933.4(USH2A):c.1144-2A>T
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.12759G>A (p.Trp4253Ter)
NM_206933.4(USH2A):c.13128G>A (p.Trp4376Ter)
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)
NM_206933.4(USH2A):c.2710_2720dup (p.Leu908fs)
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048

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