ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter) rs397517979 0.00002
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.4(USH2A):c.14131C>T (p.Gln4711Ter) rs747063294
NM_206933.4(USH2A):c.14289del (p.Ile4764fs) rs2102644832
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5728C>T (p.Gln1910Ter) rs2031617950
NM_206933.4(USH2A):c.6621C>A (p.Tyr2207Ter) rs771072859
NM_206933.4(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter) rs1553273330
NM_206933.4(USH2A):c.8723_8724del (p.Val2908fs) rs2102440742
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9739+2T>C rs2102792992
NM_206933.4(USH2A):c.9959-2A>G rs1661946523

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