ClinVar Miner

List of variants in gene USH2A reported by Human Genetics - Radboudumc,Radboudumc

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Total variants: 26
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HGVS dbSNP
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[15319C>T;3902G>T]
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.3(USH2A):c.10109G>T (p.Cys3370Phe) rs1558099166
NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.3(USH2A):c.1965T>G (p.Cys655Trp) rs1558366840
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.3(USH2A):c.4036G>A (p.Gly1346Arg) rs1558311789
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu)
NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe)
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7951A>G (p.Asn2651Asp)
NM_206933.3(USH2A):c.8842C>T (p.Pro2948Ser)
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950

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