ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for not provided

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Gene type:
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Total variants: 45
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
NC_000001.10:g.(?_215914707)_(215933195_?)dup
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.2(USH2A):c.3812-3_3837dup rs780071028
NM_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.3(USH2A):c.10741-1G>T rs1064795279
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.3(USH2A):c.2809+2T>A rs1553320397
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.3(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_206933.3(USH2A):c.486-1_625del
NM_206933.3(USH2A):c.5858-1G>A rs397518023
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.7595-2A>G rs1064795047
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8634_8637TATT[3] (p.Ser2881fs) rs1553272035
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208

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