ClinVar Miner

List of variants in gene USH2A studied for Retinitis pigmentosa 39

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Total variants: 42
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HGVS dbSNP
NM_206933.2(USH2A):c.[12394del;14074G>A]
NM_206933.2(USH2A):c.[15319C>T;3902G>T]
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10109G>T (p.Cys3370Phe) rs1558099166
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.1036A>C (p.Asn346His) rs369522997
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.1227G>A (p.Trp409Ter) rs397517979
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.13130C>A (p.Ser4377Ter) rs111033385
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1965T>G (p.Cys655Trp) rs1558366840
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val)
NM_206933.3(USH2A):c.2209C>T (p.Arg737Ter) rs111033334
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs) rs587776538
NM_206933.3(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.3(USH2A):c.3543_3544AT[2] (p.Ile1183fs) rs397518013
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.4036G>A (p.Gly1346Arg) rs1558311789
NM_206933.3(USH2A):c.486-14G>A rs374536346
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe)
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.7951A>G (p.Asn2651Asp)
NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter) rs1558146243
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.8681G>A (p.Arg2894Lys) rs1369414978
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9343_9344AC[1] (p.Pro3116fs) rs536593247
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.3(USH2A):c.9919T>A (p.Cys3307Ser) rs1553263572

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