ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 358
Download table as spreadsheet
HGVS dbSNP
NC_000006.11:g.65133931_65156120dup
NM_000086.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_000086.2(CLN3):c.461-279_677+384del rs1555468632
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000086.2(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) rs527236085
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs)
NM_000283.3(PDE6B):c.1107+3A>G rs370898371
NM_000283.3(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.3(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1654del (p.Arg552fs)
NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.3(PDE6B):c.1A>G (p.Met1Val) rs781003757
NM_000283.3(PDE6B):c.207dup (p.Ile70fs)
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000283.3(PDE6B):c.993-1G>C rs527236090
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter)
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) rs1554268546
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg)
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291
NM_000327.3(ROM1):c.859C>T (p.Arg287Trp) rs768652143
NM_000328.3(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_000328.3(RPGR):c.1179T>G (p.Tyr393Ter)
NM_000328.3(RPGR):c.1234C>T (p.Arg412Ter)
NM_000328.3(RPGR):c.1236_1239del (p.Glu414fs)
NM_000328.3(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_000328.3(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_000328.3(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_000328.3(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_000328.3(RPGR):c.1573-3C>G
NM_000328.3(RPGR):c.1731dup (p.Ala578fs)
NM_000328.3(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_000328.3(RPGR):c.1905+345_1905+346del rs1555961849
NM_000328.3(RPGR):c.1905+479del rs1569237206
NM_000328.3(RPGR):c.1905+76G>T rs527236108
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs)
NM_000328.3(RPGR):c.469+1G>A rs62638646
NM_000328.3(RPGR):c.779-3C>A rs1555965712
NM_000328.3(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_000328.3(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_000328.3(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000390.4(CHM):c.3G>A (p.Met1Ile)
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000440.3(PDE6A):c.1407+1G>A
NM_000440.3(PDE6A):c.1620+1G>A
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.612del (p.Lys205fs)
NM_000440.3(PDE6A):c.627+2T>G
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000539.3(RHO):c.1033G>T (p.Val345Leu)
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.203T>G (p.Leu68Arg)
NM_000539.3(RHO):c.265G>C (p.Gly89Arg)
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000539.3(RHO):c.908C>G (p.Pro303Arg)
NM_000539.3(RHO):c.934C>T (p.Gln312Ter)
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102
NM_000541.4:c.513_806del
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000554.6(CRX):c.684G>C (p.Gln228His)
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063
NM_000883.4(IMPDH1):c.402+1G>T
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val)
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401
NM_001023570.4(IQCB1):c.1516_1517CA[1] (p.His506fs) rs398123538
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs)
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056
NM_001030311.2(CERKL):c.481+2T>G rs753994107
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu) rs1554338016
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter) rs773278338
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001142564.1(CNGA1):c.1046G>A (p.Arg349His) rs375412499
NM_001142564.1(CNGA1):c.1196A>G (p.Asp399Gly) rs527236059
NM_001142564.1(CNGA1):c.1840G>A (p.Gly614Ser) rs527236057
NM_001142564.1(CNGA1):c.398del (p.Gly133fs) rs527236058
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.350del (p.Asn117fs)
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7412-1G>C
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) rs527236070
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145847.2(PROM1):c.1683C>A (p.Tyr561Ter) rs201644238
NM_001145847.2(PROM1):c.2434C>T (p.Arg812Ter)
NM_001145847.2(PROM1):c.603+2T>A
NM_001178007.1(BBS12):c.1223A>G (p.Lys408Arg)
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973
NM_001201543.2(FAM161A):c.674_677GAAG[1] (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.782del (p.Asp261fs) rs1178184685
NM_001242957.2(MAK):c.1143dup (p.Lys382Ter)
NM_001242957.2(MAK):c.340dup (p.Ala114fs) rs527236082
NM_001242957.2(MAK):c.496C>T (p.Arg166Cys) rs527236081
NM_001242957.2(MAK):c.553G>A (p.Ala185Thr) rs527236080
NM_001242957.2(MAK):c.814C>T (p.Arg272Ter)
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395
NM_001297.5(CNGB1):c.1345del (p.Ala449fs)
NM_001297.5(CNGB1):c.217+5G>C rs527236060
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826
NM_001297.5(CNGB1):c.2271del (p.Asn758fs)
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs) rs527236061
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs)
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) rs1555488573
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) rs1555488069
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs)
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.413-1G>A rs189234741
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) rs750620302
NM_001297.5(CNGB1):c.761+2T>A rs1555493707
NM_001793.6(CDH3):c.3G>A (p.Met1Ile)
NM_002905.4(RDH5):c.208C>T (p.Arg70Trp)
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117
NM_003322.6(TULP1):c.361G>T (p.Glu121Ter)
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) rs527236079
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs)
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024
NM_005183.4(CACNA1F):c.818-1G>A
NM_006177.5(NRL):c.23del (p.Leu8fs) rs527236087
NM_006214.4(PHYH):c.678+5G>T rs201499815
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928
NM_006269.2(RP1):c.2026del (p.Ser676fs)
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)
NM_006269.2(RP1):c.2083del (p.Ile695fs) rs1554519538
NM_006269.2(RP1):c.2115del (p.Gly706fs)
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) rs1554519577
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.269del (p.His90fs)
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter)
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter)
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911
NM_006269.2(RP1):c.5883del (p.Thr1962fs) rs1554520068
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006269.2(RP1):c.788-2A>T
NM_006269.2(RP1):c.830_831del (p.Ser277fs)
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly) rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
NM_006343.3(MERTK):c.62_482dup (p.Ile162Tyrfs)
NM_006343.3(MERTK):c.757+1G>A
NM_006343.3(MERTK):c.960+1G>A
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) rs1556318627
NM_006915.3(RP2):c.352C>G (p.Arg118Gly)
NM_006915.3(RP2):c.390T>A (p.Cys130Ter)
NM_006915.3(RP2):c.49C>T (p.Pro17Ser)
NM_006915.3(RP2):c.826del (p.Asp276fs)
NM_012469.4(PRPF6):c.550G>C (p.Asp184His) rs527236096
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086
NM_014249.4(NR2E3):c.481del (p.Thr161fs)
NM_014249.4(NR2E3):c.554del (p.Lys185fs)
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter)
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014336.5(AIPL1):c.294del (p.Ile99fs)
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123
NM_015120.4(ALMS1):c.4150dup (p.Gln1384fs)
NM_015629.3:c.(?_-1)_(*1_?)del
NM_015629.3:c.(?_-1)_(238+1_239-1)del
NM_015629.4(PRPF31):c.1129del (p.Arg377fs) rs1555794302
NM_015629.4(PRPF31):c.1147-153_1196del rs1555794509
NM_015629.4(PRPF31):c.1190dup (p.His398fs)
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer)
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) rs1555791188
NM_015629.4(PRPF31):c.421-2A>G
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter) rs527236094
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.666_668del (p.Ile223del)
NM_015629.4(PRPF31):c.673del (p.Ala225fs)
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu) rs527236095
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) rs1555793207
NM_015629.4(PRPF31):c.855+1G>T
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter)
NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) rs1553687058
NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) rs1553681348
NM_016247.4(IMPG2):c.2928del (p.Asn976fs) rs770339774
NM_016247.4(IMPG2):c.3023-6_3030dup rs754995805
NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe) rs879255547
NM_018191.4(RCBTB1):c.919G>A (p.Val307Met) rs368217569
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) rs200826424
NM_020366.3(RPGRIP1):c.2890del (p.Ser964fs) rs1555302710
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_024649.5(BBS1):c.1110+3G>C
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1713del (p.Gly572fs) rs1555050487
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_030582.4(COL18A1):c.4054_4055del (p.Leu1352fs) rs398122391
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs)
NM_032119.4(ADGRV1):c.4379-1G>A
NM_033056.4(PCDH15):c.594G>A (p.Pro198=) rs368308772
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) rs1477733493
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_052995.2(CLRN1):c.206-2A>T
NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe)
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054
NM_198428.3(BBS9):c.115A>G (p.Lys39Glu)
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) rs776788104
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter)
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) rs1553260517
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201548.4(CERKL):c.769C>T rs121909398
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.613+4_613+5del rs766131721
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_206933.3(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
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.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.3(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
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.12874A>G (p.Asn4292Asp) rs397517984
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.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.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.3(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.3(USH2A):c.2028C>A (p.Cys676Ter)
NM_206933.3(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.3005G>C (p.Cys1002Ser)
NM_206933.3(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875
NM_206933.3(USH2A):c.5009T>C (p.Val1670Ala)
NM_206933.3(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.3(USH2A):c.5544_5545CT[1] (p.Ser1849fs)
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
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.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.8223+1G>C rs1553273280
NM_206933.3(USH2A):c.8254G>A (p.Gly2752Arg)
NM_206933.3(USH2A):c.9259-503_9371+1650del
NM_206933.3(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.3(USH2A):c.9370A>G (p.Arg3124Gly)
NM_206933.3(USH2A):c.9571-2A>G rs751111524
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.9882C>G (p.Cys3294Trp) rs749228276
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.