ClinVar Miner

List of variants in gene USH2A reported by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 95
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HGVS dbSNP
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.3(USH2A):c.10318del (p.Ile3440fs) rs1553261898
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289
NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.3(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690
NM_206933.3(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) rs746071929
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.6958-8A>T rs769264662
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.3(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830
NM_206933.3(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu)
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser)
NM_206933.4(USH2A):c.11389+1G>T
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup)
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.12332C>T (p.Ser4111Phe) rs142095945
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.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser)
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser)
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter)
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.288del (p.Tyr97fs)
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter)
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter)
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu)
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
NM_206933.4(USH2A):c.4251+1G>T
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs)
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys)
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys)
NM_206933.4(USH2A):c.5298+3A>G
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter)
NM_206933.4(USH2A):c.5598T>C (p.Val1866=)
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter)
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg)
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile)
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro)
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro)
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu)
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
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)

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