ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 307
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_206933.4(USH2A):c.4397-1G>A rs199982344 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.12395T>C (p.Leu4132Pro) rs767712486 0.00003
NM_206933.4(USH2A):c.15297+1G>C rs767630412 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.10820A>C (p.His3607Pro) rs750321557 0.00002
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met) rs757676723 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.6986C>A (p.Pro2329His) rs554957414 0.00002
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp) rs1394948601 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys) rs758951363 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.14294T>C (p.Val4765Ala) rs763127023 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.14546G>A (p.Trp4849Ter) rs1656936749 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.1541T>C (p.Ile514Thr) rs768813865 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) rs1378799607 0.00001
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr) rs780709977 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.232T>G (p.Phe78Val) rs775094277 0.00001
NM_206933.4(USH2A):c.3316+2T>A rs753423216 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4885+1G>A rs150896588 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7300+1G>C rs1343780391 0.00001
NM_206933.4(USH2A):c.7594+2del rs762608746 0.00001
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys) rs1424639717 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8845+2T>G rs1441350225 0.00001
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
NC_000001.10:g.(?_215802146)_(215808055_?)dup
NC_000001.10:g.(?_215812487)_(215824153_?)dup
NC_000001.10:g.(?_215820844)_(215824163_?)dup
NC_000001.10:g.(?_215847432)_(215853728_?)dup
NC_000001.10:g.(?_215848781)_(215852314_?)del
NC_000001.10:g.(?_215901352)_(216051242_?)dup
NC_000001.10:g.(?_215914697)_(215914899_?)dup
NC_000001.10:g.(?_215940013)_(215960226_?)dup
NC_000001.10:g.(?_215940031)_(215950286_?)del
NC_000001.10:g.(?_216107948)_(216138831_?)dup
NC_000001.10:g.(?_216107948)_(216144128_?)del
NC_000001.10:g.(?_216107948)_(216166519_?)dup
NC_000001.10:g.(?_216108028)_(216110946_?)del
NC_000001.10:g.(?_216138649)_(216465722_?)dup
NC_000001.10:g.(?_216348570)_(216538437_?)dup
NC_000001.10:g.(?_216372959)_(216373473_?)del
NC_000001.10:g.(?_216380707)_(216382383_?)del
NC_000001.10:g.(?_216405285)_(216424450_?)dup
NC_000001.10:g.(?_216495215)_(216501006_?)dup
NC_000001.11:g.(?_215766671)_(215934805_?)del
NC_000001.11:g.(?_215798897)_(215799135_?)del
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.1036A>G (p.Asn346Asp) rs369522997
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser)
NM_206933.4(USH2A):c.10387+1G>A
NM_206933.4(USH2A):c.10437G>T (p.Trp3479Cys)
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.4(USH2A):c.10585+1G>A rs2102763351
NM_206933.4(USH2A):c.10709G>T (p.Cys3570Phe)
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.10724G>C (p.Cys3575Ser) rs111033265
NM_206933.4(USH2A):c.10939+2T>C rs1661573417
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11231+1G>A rs111033382
NM_206933.4(USH2A):c.11231+1G>C rs111033382
NM_206933.4(USH2A):c.11231+1G>T rs111033382
NM_206933.4(USH2A):c.11232-1G>A rs2102741367
NM_206933.4(USH2A):c.11232-1G>C
NM_206933.4(USH2A):c.11232-2A>G
NM_206933.4(USH2A):c.11266G>A (p.Gly3756Ser)
NM_206933.4(USH2A):c.11267G>A (p.Gly3756Asp)
NM_206933.4(USH2A):c.11387C>T (p.Pro3796Leu)
NM_206933.4(USH2A):c.11389+2del rs2102741149
NM_206933.4(USH2A):c.11390-1G>A rs2102727580
NM_206933.4(USH2A):c.11549-4_11549del rs2102725799
NM_206933.4(USH2A):c.11683G>A (p.Gly3895Arg)
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.11712-2A>C rs753505333
NM_206933.4(USH2A):c.1173T>A (p.Ser391Arg)
NM_206933.4(USH2A):c.12066+1G>A rs2102713275
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
NM_206933.4(USH2A):c.12269C>T (p.Pro4090Leu)
NM_206933.4(USH2A):c.12383A>G (p.Tyr4128Cys) rs2102667066
NM_206933.4(USH2A):c.12395T>A (p.Leu4132Gln)
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser)
NM_206933.4(USH2A):c.12416G>T (p.Gly4139Val) rs1366681759
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys) rs1657987278
NM_206933.4(USH2A):c.1255T>C (p.Cys419Arg)
NM_206933.4(USH2A):c.12560G>C (p.Arg4187Pro)
NM_206933.4(USH2A):c.12569T>C (p.Val4190Ala) rs979037444
NM_206933.4(USH2A):c.12958G>A (p.Asp4320Asn) rs140202956
NM_206933.4(USH2A):c.13010C>G (p.Thr4337Arg)
NM_206933.4(USH2A):c.13010C>T (p.Thr4337Met) rs527236137
NM_206933.4(USH2A):c.13018G>A (p.Gly4340Arg)
NM_206933.4(USH2A):c.13019G>A (p.Gly4340Glu)
NM_206933.4(USH2A):c.13019G>C (p.Gly4340Ala)
NM_206933.4(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.4(USH2A):c.13202G>A (p.Gly4401Asp)
NM_206933.4(USH2A):c.13274C>G (p.Thr4425Arg) rs201238640
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp) rs775556188
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu) rs139474806
NM_206933.4(USH2A):c.13349C>T (p.Pro4450Leu) rs2102665385
NM_206933.4(USH2A):c.13436T>G (p.Leu4479Arg)
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup) rs1349222819
NM_206933.4(USH2A):c.13546G>T (p.Gly4516Trp)
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.4(USH2A):c.14222C>T (p.Pro4741Leu) rs1657042446
NM_206933.4(USH2A):c.14286C>A (p.Asn4762Lys) rs750368946
NM_206933.4(USH2A):c.14288G>T (p.Gly4763Val)
NM_206933.4(USH2A):c.14303A>G (p.Tyr4768Cys) rs1657029417
NM_206933.4(USH2A):c.14343+1G>A rs2102644733
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
NM_206933.4(USH2A):c.14569G>A (p.Gly4857Ser)
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14583-1G>T
NM_206933.4(USH2A):c.14791+4A>G rs1408904076
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs) rs1656646221
NM_206933.4(USH2A):c.14968+1G>C
NM_206933.4(USH2A):c.14968+2T>G rs1656640356
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.15053-1G>A
NM_206933.4(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.4(USH2A):c.15297+1G>A
NM_206933.4(USH2A):c.15297+1G>T rs767630412
NM_206933.4(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.1551-1G>A
NM_206933.4(USH2A):c.1551-2A>G
NM_206933.4(USH2A):c.1551-9T>A rs995537756
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser)
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.4(USH2A):c.1730G>A (p.Cys577Tyr)
NM_206933.4(USH2A):c.1751G>A (p.Cys584Tyr)
NM_206933.4(USH2A):c.1822T>C (p.Cys608Arg)
NM_206933.4(USH2A):c.1971+1G>T rs2036950570
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu)
NM_206933.4(USH2A):c.1991G>T (p.Cys664Phe)
NM_206933.4(USH2A):c.2072G>C (p.Cys691Ser)
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2167+1G>A rs2102551610
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.2296T>A (p.Cys766Ser)
NM_206933.4(USH2A):c.262T>A (p.Cys88Ser) rs2102788720
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter) rs368798834
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2915G>T (p.Cys972Phe)
NM_206933.4(USH2A):c.3157+1G>A
NM_206933.4(USH2A):c.3158-1G>A rs1231186035
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3406A>G (p.Ser1136Gly) rs2034947671
NM_206933.4(USH2A):c.3461del (p.Thr1153_Leu1154insTer)
NM_206933.4(USH2A):c.3507G>C (p.Trp1169Cys)
NM_206933.4(USH2A):c.3746C>T (p.Pro1249Leu)
NM_206933.4(USH2A):c.3811+1G>T
NM_206933.4(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.4(USH2A):c.4081+1G>A rs2102463697
NM_206933.4(USH2A):c.4081+1_4081+9del rs2102463667
NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro) rs2034852728
NM_206933.4(USH2A):c.4144T>G (p.Trp1382Gly)
NM_206933.4(USH2A):c.4189T>A (p.Tyr1397Asn)
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His) rs2102460239
NM_206933.4(USH2A):c.4252-1G>A
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4397-1del
NM_206933.4(USH2A):c.4416del (p.Pro1473fs)
NM_206933.4(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile) rs2034357761
NM_206933.4(USH2A):c.4577G>T (p.Gly1526Val)
NM_206933.4(USH2A):c.4669_4672del (p.Ile1557fs) rs747891004
NM_206933.4(USH2A):c.4823A>C (p.His1608Pro) rs2032221370
NM_206933.4(USH2A):c.4824T>A (p.His1608Gln) rs2102565260
NM_206933.4(USH2A):c.485_485+2del
NM_206933.4(USH2A):c.486-1_625del rs1571801564
NM_206933.4(USH2A):c.486-4_486-2del
NM_206933.4(USH2A):c.4886-1G>A rs1553300340
NM_206933.4(USH2A):c.4886-33_4894dup
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.4987+1G>A rs768117100
NM_206933.4(USH2A):c.4988-2A>G rs143521854
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167+1G>A rs794727408
NM_206933.4(USH2A):c.5167+1G>C rs794727408
NM_206933.4(USH2A):c.5167+1G>T rs794727408
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg) rs1342455785
NM_206933.4(USH2A):c.5298+1G>T
NM_206933.4(USH2A):c.5399G>T (p.Trp1800Leu)
NM_206933.4(USH2A):c.5447T>A (p.Val1816Glu) rs777011507
NM_206933.4(USH2A):c.5498T>A (p.Val1833Glu) rs2102554268
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.5519G>A (p.Gly1840Glu)
NM_206933.4(USH2A):c.5522G>A (p.Gly1841Glu)
NM_206933.4(USH2A):c.5522G>T (p.Gly1841Val)
NM_206933.4(USH2A):c.5582G>T (p.Gly1861Val)
NM_206933.4(USH2A):c.5603_5613del (p.Phe1868fs)
NM_206933.4(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6163+1G>A rs2030617696
NM_206933.4(USH2A):c.6326-1G>A rs878853411
NM_206933.4(USH2A):c.6326-1G>T
NM_206933.4(USH2A):c.6326-2A>G rs1553287118
NM_206933.4(USH2A):c.6326-3_6332del rs1553287116
NM_206933.4(USH2A):c.6383G>C (p.Cys2128Ser) rs2102483271
NM_206933.4(USH2A):c.6485+1G>A rs1553287070
NM_206933.4(USH2A):c.6485+5del
NM_206933.4(USH2A):c.6486-1G>A rs2102482051
NM_206933.4(USH2A):c.6486-2A>G
NM_206933.4(USH2A):c.652-2A>G rs2038569690
NM_206933.4(USH2A):c.6653T>C (p.Leu2218Pro)
NM_206933.4(USH2A):c.6721C>A (p.Pro2241Thr)
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6805G>C (p.Gly2269Arg) rs1668037260
NM_206933.4(USH2A):c.6806-2A>G rs765217736
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6929C>G (p.Thr2310Arg)
NM_206933.4(USH2A):c.6937G>A (p.Gly2313Ser)
NM_206933.4(USH2A):c.6937G>C (p.Gly2313Arg)
NM_206933.4(USH2A):c.6949G>C (p.Gly2317Arg) rs2102458324
NM_206933.4(USH2A):c.6957+1G>C rs2102458321
NM_206933.4(USH2A):c.6992G>A (p.Gly2331Glu)
NM_206933.4(USH2A):c.7120+1G>A rs1667311758
NM_206933.4(USH2A):c.7121-1G>T rs2102499826
NM_206933.4(USH2A):c.7451+1G>A rs541848371
NM_206933.4(USH2A):c.7451+1G>T
NM_206933.4(USH2A):c.7451+2T>A rs2102470099
NM_206933.4(USH2A):c.7595-1G>T rs1553273421
NM_206933.4(USH2A):c.7595-2A>G rs1064795047
NM_206933.4(USH2A):c.7595-3_7596delinsGAGAG
NM_206933.4(USH2A):c.769G>A (p.Gly257Arg)
NM_206933.4(USH2A):c.770G>T (p.Gly257Val)
NM_206933.4(USH2A):c.781_784+1375del
NM_206933.4(USH2A):c.784+2T>C rs2038566039
NM_206933.4(USH2A):c.785-1G>A rs2037762589
NM_206933.4(USH2A):c.785-2A>C
NM_206933.4(USH2A):c.8195_8199dup (p.Val2734Ter)
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe) rs2037760521
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly) rs2102658767
NM_206933.4(USH2A):c.848+1G>T rs2102658764
NM_206933.4(USH2A):c.848+2T>C rs2102658759
NM_206933.4(USH2A):c.849-2A>G rs2102656326
NM_206933.4(USH2A):c.8558+1G>T rs770383273
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8655_8681+1681del
NM_206933.4(USH2A):c.8682-2A>C rs1553271002
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.8846-2A>T rs1553268594
NM_206933.4(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.4(USH2A):c.9055+1G>A rs1553268562
NM_206933.4(USH2A):c.9389G>T (p.Trp3130Leu)
NM_206933.4(USH2A):c.9739+1G>C rs2102792994
NM_206933.4(USH2A):c.9740-1G>A rs1662239185
NM_206933.4(USH2A):c.9740-2A>G rs2102778824
NM_206933.4(USH2A):c.9800G>T (p.Cys3267Phe) rs1662225276
NM_206933.4(USH2A):c.9880T>A (p.Cys3294Ser)
NM_206933.4(USH2A):c.9881G>T (p.Cys3294Phe) rs2102778597
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp) rs780036975
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958+1G>C
NM_206933.4(USH2A):c.9958+2T>C rs2102778466

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