ClinVar Miner

List of variants in gene USH2A reported as pathogenic for Retinitis pigmentosa 39

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Total variants: 50
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.1679del (p.Pro560fs) rs773539640
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe) rs748983904
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) rs200712760
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs) rs398124618
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.4056G>A (p.Trp1352Ter)
NM_206933.4(USH2A):c.409dup (p.Ser137fs) rs1571805164
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.4(USH2A):c.8559-2A>G rs397518039
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9371+1G>C rs41308425
NM_206933.4(USH2A):c.9570+1G>A rs760225886

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