ClinVar Miner

List of variants studied for Joubert syndrome 1 by Invitae

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 368
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HGVS dbSNP
NC_000004.11:g.(?_15480347)_(15482451_?)del
NC_000006.11:g.(?_135715894)_(135732702_?)del
NC_000006.11:g.(?_135751020)_(135754394_?)del
NC_000012.11:g.88465636C>G
NC_000023.10:g.(?_13753080)_(13754816_?)dup
NC_000023.10:g.(?_13753171)_(13762658_?)del
NM_001009894.3(C12orf29):c.*786A>T rs794727762
NM_001009894.3(C12orf29):c.*870_*874CTTCT[3]
NM_001009894.3(C12orf29):c.*891C>A rs534440681
NM_001009894.3(C12orf29):c.*926C>T rs200178519
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1260T>G (p.Cys420Trp) rs751436798
NM_001080522.2(CC2D2A):c.1266C>G (p.Ser422Arg) rs1229319521
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1533A>T (p.Lys511Asn)
NM_001080522.2(CC2D2A):c.1546A>G (p.Met516Val) rs751646059
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.2090T>C (p.Val697Ala)
NM_001080522.2(CC2D2A):c.2437G>A (p.Gly813Arg)
NM_001080522.2(CC2D2A):c.2625+1G>A
NM_001080522.2(CC2D2A):c.2687A>C (p.Glu896Ala) rs1553838206
NM_001080522.2(CC2D2A):c.3014+4A>C rs748451478
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3154G>A (p.Asp1052Asn) rs1055487228
NM_001080522.2(CC2D2A):c.3157A>G (p.Ile1053Val) rs148194457
NM_001080522.2(CC2D2A):c.3288+3G>A
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3503G>A (p.Arg1168His) rs375344007
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3689G>A (p.Arg1230Gln) rs778082588
NM_001080522.2(CC2D2A):c.3751G>A (p.Gly1251Arg) rs368180778
NM_001080522.2(CC2D2A):c.3779C>T (p.Ser1260Phe) rs759726075
NM_001080522.2(CC2D2A):c.389G>A (p.Arg130His) rs778519147
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs)
NM_001080522.2(CC2D2A):c.4139G>A (p.Gly1380Asp) rs1271963891
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796
NM_001080522.2(CC2D2A):c.4437G>C (p.Gln1479His) rs878854168
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4541G>A (p.Arg1514His) rs368191427
NM_001080522.2(CC2D2A):c.4550C>T (p.Thr1517Ile)
NM_001080522.2(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4682dup (p.Phe1562fs) rs1553845917
NM_001080522.2(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)
NM_001080522.2(CC2D2A):c.964del (p.Val322fs)
NM_001080522.2(CC2D2A):c.970C>T (p.Arg324Cys) rs376969878
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.2(AHI1):c.1355del (p.Phe452fs) rs1554208431
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=)
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=) rs750069868
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs) rs1554350503
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn)
NM_001134831.2(AHI1):c.2492+1G>A
NM_001134831.2(AHI1):c.2722G>A (p.Gly908Arg)
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960
NM_001134831.2(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA rs878855030
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly)
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001142301.1(TMEM67):c.-62+641G>A rs780823805
NM_001142301.1(TMEM67):c.1075C>T (p.Arg359Trp)
NM_001142301.1(TMEM67):c.1079G>T (p.Arg360Leu) rs386834183
NM_001142301.1(TMEM67):c.1136G>C (p.Arg379Thr)
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1402C>T (p.Arg468Cys) rs747025617
NM_001142301.1(TMEM67):c.1431+5A>T rs863224813
NM_001142301.1(TMEM67):c.1457A>G (p.Tyr486Cys) rs148726767
NM_001142301.1(TMEM67):c.1531-6_1531-3inv rs1554556213
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.1718-7T>A rs1563472215
NM_001142301.1(TMEM67):c.1885A>G (p.Met629Val)
NM_001142301.1(TMEM67):c.1994T>C (p.Ile665Thr)
NM_001142301.1(TMEM67):c.200C>A (p.Ala67Glu) rs1563679408
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001142301.1(TMEM67):c.2108G>A (p.Cys703Tyr)
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.2313+4T>G rs772449181
NM_001142301.1(TMEM67):c.2411T>C (p.Ile804Thr) rs1563481671
NM_001142301.1(TMEM67):c.2419G>T (p.Val807Phe)
NM_001142301.1(TMEM67):c.2482G>C (p.Glu828Gln) rs878855230
NM_001142301.1(TMEM67):c.268G>A (p.Val90Ile) rs200329273
NM_001142301.1(TMEM67):c.274T>C (p.Cys92Arg) rs138783896
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.379A>T (p.Arg127Ter) rs137853108
NM_001142301.1(TMEM67):c.395G>A (p.Arg132His) rs770605718
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001142301.1(TMEM67):c.691T>C (p.Ser231Pro) rs864622335
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1104A>G (p.Glu368=) rs77365082
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1202G>A (p.Arg401His)
NM_001165927.1(MKS1):c.1357C>G (p.Arg453Gly) rs766392300
NM_001165927.1(MKS1):c.1378-1dup rs762668200
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1384C>G (p.Arg462Gly)
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.1460+9C>T rs1555596804
NM_001165927.1(MKS1):c.1505T>C (p.Val502Ala) rs1567794194
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.169C>T (p.Arg57Cys) rs200340896
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.284A>C (p.Tyr95Ser) rs1440792737
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.341G>A (p.Arg114Gln) rs765026950
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.439G>A (p.Glu147Lys) rs200970148
NM_001165927.1(MKS1):c.50+295C>A rs1031187314
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.615-2A>T rs773036963
NM_001165927.1(MKS1):c.665G>C (p.Ser222Thr)
NM_001165927.1(MKS1):c.71C>T (p.Thr24Ile) rs759465861
NM_001165927.1(MKS1):c.733G>C (p.Gly245Arg) rs201237547
NM_001165927.1(MKS1):c.757T>C (p.Tyr253His)
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.874G>A (p.Asp292Asn) rs750025608
NM_001165927.1(MKS1):c.98C>G (p.Pro33Arg) rs1311306088
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_003611.2(OFD1):c.-359-?_*253+?dup
NM_003611.3(OFD1):c.1007dup (p.Ser337fs) rs749448671
NM_003611.3(OFD1):c.1277T>C (p.Met426Thr)
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1399C>A (p.Arg467Ser) rs140561107
NM_003611.3(OFD1):c.1427C>T (p.Ala476Val) rs1189655158
NM_003611.3(OFD1):c.1468G>A (p.Glu490Lys) rs1454731121
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.1785A>G (p.Lys595=)
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.195A>C (p.Glu65Asp) rs1060500184
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2030A>T (p.Glu677Val) rs370183911
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.2140G>A (p.Val714Met) rs797045845
NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) rs746300545
NM_003611.3(OFD1):c.2177G>A (p.Arg726His) rs750984782
NM_003611.3(OFD1):c.2188T>A (p.Ser730Thr)
NM_003611.3(OFD1):c.2197C>T (p.Arg733Cys) rs1376239977
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.26C>T (p.Thr9Ile) rs1555900190
NM_003611.3(OFD1):c.2719A>G (p.Arg907Gly) rs1569163323
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.3011C>G (p.Ser1004Cys) rs1060500182
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.610A>G (p.Lys204Glu) rs1060500183
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.89G>A (p.Arg30Gln) rs1060500185
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del) rs1555602657
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val)
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys) rs864622470
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3617-2A>G
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849
NM_015272.5(RPGRIP1L):c.883-2A>G
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs)
NM_015681.5(B9D1):c.109G>A (p.Gly37Ser) rs771997194
NM_015681.5(B9D1):c.151T>C (p.Ser51Pro)
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.5(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.434C>T (p.Thr145Ile) rs765607415
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1354G>A (p.Val452Met) rs1554793007
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1846C>A (p.Leu616Ile) rs1564430711
NM_019892.6(INPP5E):c.1919T>C (p.Ile640Thr) rs753001340
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.197G>A (p.Arg66Gln) rs778236228
NM_019892.6(INPP5E):c.554T>A (p.Leu185Gln) rs372412898
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_024809.5(TCTN2):c.1234+5C>G rs201382614
NM_024809.5(TCTN2):c.2066G>C (p.Trp689Ser) rs771335558
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.688G>A (p.Asp230Asn) rs987899301
NM_024809.5(TCTN2):c.731C>T (p.Thr244Ile) rs760376471
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1199C>T (p.Thr400Ile) rs773578133
NM_025114.3(CEP290):c.1387G>A (p.Val463Ile) rs558414868
NM_025114.3(CEP290):c.1390G>C (p.Glu464Gln) rs1437841365
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.151C>T (p.Leu51Phe) rs1264332374
NM_025114.3(CEP290):c.1523-1G>T rs1192112844
NM_025114.3(CEP290):c.1665A>T (p.Lys555Asn) rs374824892
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.180+1G>A rs758593134
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2098C>T (p.His700Tyr) rs369104382
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.2191C>A (p.Gln731Lys) rs767250881
NM_025114.3(CEP290):c.2367+4T>C rs1413934261
NM_025114.3(CEP290):c.2423A>G (p.Tyr808Cys) rs773007151
NM_025114.3(CEP290):c.2473G>A (p.Glu825Lys) rs779666225
NM_025114.3(CEP290):c.2479C>G (p.Leu827Val) rs201569048
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.3(CEP290):c.3104-5T>G
NM_025114.3(CEP290):c.3132G>T (p.Lys1044Asn) rs762342726
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3205_3206delGAinsTG (p.Glu1069Ter) rs1555212150
NM_025114.3(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.3787C>A (p.Leu1263Met) rs370395204
NM_025114.3(CEP290):c.3826G>A (p.Gly1276Arg) rs267603712
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.3858C>A (p.Phe1286Leu) rs1353300022
NM_025114.3(CEP290):c.4045A>G (p.Met1349Val) rs923112337
NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs) rs863224523
NM_025114.3(CEP290):c.4288A>C (p.Asn1430His) rs749261915
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025114.3(CEP290):c.4438-318_7243del
NM_025114.3(CEP290):c.4438-3delC rs747323414
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4813-2A>G rs369523378
NM_025114.3(CEP290):c.4837C>G (p.Pro1613Ala) rs769280708
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs) rs764309755
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.4978T>A (p.Leu1660Ile) rs372557655
NM_025114.3(CEP290):c.508A>T (p.Lys170Ter) rs772170760
NM_025114.3(CEP290):c.5125C>A (p.Gln1709Lys) rs367580207
NM_025114.3(CEP290):c.5158A>G (p.Thr1720Ala) rs1555205391
NM_025114.3(CEP290):c.5167A>G (p.Met1723Val) rs542400806
NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5512dup (p.Arg1838Lysfs) rs1565822519
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5733G>T (p.Arg1911Ser) rs1565813077
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
NM_025114.3(CEP290):c.6358-1G>A rs766670248
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr) rs535765861
NM_025114.3(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.6819-?_*171+?dup
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp) rs863224794
NM_025114.3(CEP290):c.790G>T (p.Val264Leu) rs1242440672
NM_025114.3(CEP290):c.814G>A (p.Asp272Asn) rs866480852
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566
NM_025114.3(CEP290):c.974T>C (p.Ile325Thr) rs769705837
NM_025114.3:c.1072C>T
NM_025114.3:c.1536G>T
NM_025114.3:c.1645C>T
NM_025114.3:c.166C>T
NM_025114.3:c.2546A>T
NM_025114.3:c.322C>T
NM_025114.3:c.3418G>A
NM_025114.3:c.3605A>G
NM_025114.3:c.3802C>T
NM_025114.3:c.4028delA rs1213286417
NM_025114.3:c.4040G>A
NM_025114.3:c.4186C>T
NM_025114.3:c.4383G>T
NM_025114.3:c.5083G>T
NM_025114.3:c.5228C>T
NM_025114.3:c.5445_5448delAACT
NM_025114.3:c.5728_5731delATTA
NM_025114.3:c.6807T>G
NM_025114.3:c.7073_7077dupTAATC
NM_025114.4(CEP290):c.5415del (p.Thr1807fs)
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6869del (p.Asn2290fs)
NM_030578.4(B9D2):c.150G>C (p.Gln50His) rs747988749
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_030578.4(B9D2):c.163_164delinsAA (p.Ala55Asn) rs1555756363
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs)
Single allele

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