ClinVar Miner

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

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn) rs747578300 0.00002
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp) rs764113446 0.00001
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) rs1660298900 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.11816_11822dup (p.Val3942fs) rs1659891151
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) rs1657992030
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu) rs755099565
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer) rs1656646424
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs) rs747160949
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) rs2036149054
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.4(USH2A):c.377del (p.Ser126fs) rs1571805235
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter)
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs) rs2039692173
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr) rs1421761057
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu) rs1667316070
NM_206933.4(USH2A):c.7588del (p.Glu2530fs) rs1665448415
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter) rs1664490756
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801

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