ClinVar Miner

List of variants in gene USH2A studied for Retinitis pigmentosa

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Gene type:
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Total variants: 100
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HGVS dbSNP
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.8682delG (p.Arg2894Serfs) rs527236120
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.3(USH2A):c.10010G>T (p.Cys3337Phe)
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.3(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.3(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.3(USH2A):c.11700C>A (p.Tyr3900Ter) rs1553257498
NM_206933.3(USH2A):c.11714G>A (p.Arg3905His)
NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs) rs779791079
NM_206933.3(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.3(USH2A):c.12161G>T (p.Ser4054Ile)
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.12695C>A (p.Pro4232Gln) rs745371873
NM_206933.3(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.3(USH2A):c.13123T>G (p.Cys4375Gly)
NM_206933.3(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.3(USH2A):c.13274C>A (p.Thr4425Lys)
NM_206933.3(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920
NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.3(USH2A):c.1391G>A (p.Arg464His)
NM_206933.3(USH2A):c.13948C>T (p.Gln4650Ter)
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.3(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.3(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.1606T>C (p.Cys536Arg) rs111033273
NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.2028C>A (p.Cys676Ter)
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.3005G>C (p.Cys1002Ser)
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.4146G>C (p.Trp1382Cys)
NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter) rs746551311
NM_206933.3(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_206933.3(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803
NM_206933.3(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.3(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.3(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6728G>T (p.Gly2243Val)
NM_206933.3(USH2A):c.672C>A (p.Ser224Arg)
NM_206933.3(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.3(USH2A):c.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8223+1G>C rs1553273280
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)
NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.3(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529
NM_206933.3(USH2A):c.8559-2A>G rs397518039
NM_206933.3(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390
NM_206933.3(USH2A):c.8884C>A (p.Leu2962Ile) rs761359720
NM_206933.3(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.3(USH2A):c.9056-2A>G
NM_206933.3(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.9259-503_9371+1650del
NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.3(USH2A):c.9346C>A (p.Pro3116Thr)
NM_206933.3(USH2A):c.9370A>G (p.Arg3124Gly)
NM_206933.3(USH2A):c.9503G>T (p.Cys3168Phe)
NM_206933.3(USH2A):c.9571-2A>G rs751111524
NM_206933.3(USH2A):c.9751T>C (p.Cys3251Arg) rs527236118
NM_206933.3(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_206933.3(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263
NM_206933.3(USH2A):c.9860_9873del (p.His3287fs) rs1388040238
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.3(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992
Single allele

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