ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 457
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HGVS dbSNP gnomAD frequency
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg) rs138068434 0.00018
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.136-2A>G rs776579906 0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_001082538.3(TCTN1):c.341+1G>A rs200241085 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_024809.5(TCTN2):c.267+1G>A rs141752910 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_024809.5(TCTN2):c.1612+1G>A rs371537478 0.00005
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) rs150433582 0.00004
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) rs768663992 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro) rs763425007 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp) rs374152018 0.00003
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp) rs370676288 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_015156.4(RCOR1):c.446-3C>T rs754404879 0.00002
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575 0.00002
NM_015272.5(RPGRIP1L):c.3220+1G>A rs969617857 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg) rs375126841 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_025114.4(CEP290):c.181-1G>A rs281865190 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr) rs377160954 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_001082538.3(TCTN1):c.1104+1G>C rs756402483 0.00001
NM_001082538.3(TCTN1):c.713-2A>G rs2066444872 0.00001
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys) rs891261493 0.00001
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu) rs1217172210 0.00001
NM_001134831.2(AHI1):c.2988+6T>C rs751303913 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=) rs765873247 0.00001
NM_001378615.1(CC2D2A):c.438+1G>A rs1453265480 0.00001
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) rs769705065 0.00001
NM_015272.5(RPGRIP1L):c.1700-1G>A rs1057520790 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.2304+1G>T rs746451396 0.00001
NM_015272.5(RPGRIP1L):c.3221-2A>G rs200448428 0.00001
NM_015272.5(RPGRIP1L):c.3617-2A>G rs781683750 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1096-1G>C rs1401015954 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.81-1G>A rs12942386 0.00001
NM_019892.6(INPP5E):c.1052G>A (p.Arg351His) rs775094328 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500 0.00001
NM_019892.6(INPP5E):c.1630G>A (p.Asp544Asn) rs1161636527 0.00001
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His) rs992814593 0.00001
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu) rs760790290 0.00001
NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly) rs753742613 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1712-2A>T rs764551108 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His) rs386834183 0.00001
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His) rs768457119 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NC_000004.11:g.(?_15478346)_(15482422_?)del
NC_000004.11:g.(?_15482308)_(15482471_?)dup
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000006.11:g.(?_135679250)_(135679345_?)dup
NC_000006.11:g.(?_135772926)_(135778775_?)del
NC_000006.12:g.(?_135394756)_(135411564_?)del
NC_000011.10:g.(?_61393874)_(61398286_?)del
NC_000012.11:g.(?_111079754)_(111082915_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88452605)_(88454791_?)dup
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000012.11:g.(?_88471559)_(88471893_?)del
NC_000012.11:g.(?_88517531)_(88519028_?)del
NC_000016.10:g.(?_53656472)_(53687965_?)del
NC_000016.9:g.(?_53672132)_(53679723_?)del
NC_000016.9:g.(?_53672254)_(53676298_?)del
NC_000016.9:g.(?_53720335)_(53721887_?)dup
NC_000016.9:g.(?_53721798)_(53724290_?)del
NC_000016.9:g.(?_53729213)_(53730217_?)dup
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001082538.3(TCTN1):c.1104+2T>C
NM_001082538.3(TCTN1):c.1332-1G>C
NM_001082538.3(TCTN1):c.1494+1G>A rs1165243207
NM_001082538.3(TCTN1):c.1494+2T>C
NM_001082538.3(TCTN1):c.1495-2A>G
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001082538.3(TCTN1):c.472+1G>C
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln) rs2066300090
NM_001134831.2(AHI1):c.11-1G>C
NM_001134831.2(AHI1):c.1151+1G>A rs2128081334
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.136-1G>A rs2128100946
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro) rs2128059170
NM_001134831.2(AHI1):c.1779+1G>A
NM_001134831.2(AHI1):c.1779+1G>T
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1913-1G>A
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2493-1G>T
NM_001134831.2(AHI1):c.2624-2A>G
NM_001134831.2(AHI1):c.2760_2764+2del
NM_001134831.2(AHI1):c.2764+2T>C
NM_001134831.2(AHI1):c.2961+1G>A
NM_001134831.2(AHI1):c.2961+2T>G rs2127973751
NM_001134831.2(AHI1):c.2989-1G>A
NM_001134831.2(AHI1):c.2989-2A>G rs2128485171
NM_001134831.2(AHI1):c.2989-2A>T
NM_001134831.2(AHI1):c.3110-1G>A
NM_001134831.2(AHI1):c.3110-2A>G
NM_001134831.2(AHI1):c.3166-1G>T
NM_001134831.2(AHI1):c.3426+1G>A
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3427-1G>A
NM_001134831.2(AHI1):c.3486-2A>T
NM_001134831.2(AHI1):c.749+1G>C rs780069818
NM_001134831.2(AHI1):c.750-1G>A
NM_001134831.2(AHI1):c.750-2A>G
NM_001134831.2(AHI1):c.932-2_932del
NM_001173990.3(TMEM216):c.136+2T>G
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.137-2A>C
NM_001173990.3(TMEM216):c.137-2A>G rs1858735439
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>T
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.35-1G>A rs2135189980
NM_001173990.3(TMEM216):c.35-2_35-1insT
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter) rs1885329722
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter) rs1463041654
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys) rs759684383
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter) rs745704336
NM_001329943.3(KIAA0586):c.2854_2855insG (p.Ile952fs)
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001378615.1(CC2D2A):c.1018-1G>A rs1716886666
NM_001378615.1(CC2D2A):c.123+2T>G
NM_001378615.1(CC2D2A):c.124-1G>C
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1467-1G>A
NM_001378615.1(CC2D2A):c.1608-2A>G
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg) rs754221308
NM_001378615.1(CC2D2A):c.1765-1G>C
NM_001378615.1(CC2D2A):c.1993_2003+43del
NM_001378615.1(CC2D2A):c.2003+1G>A
NM_001378615.1(CC2D2A):c.2004-1G>A
NM_001378615.1(CC2D2A):c.2338+2T>C
NM_001378615.1(CC2D2A):c.247+1G>A rs765072583
NM_001378615.1(CC2D2A):c.248-1G>A rs2108998253
NM_001378615.1(CC2D2A):c.2486+1G>A
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
NM_001378615.1(CC2D2A):c.2830-1G>A
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3015-1G>C
NM_001378615.1(CC2D2A):c.3182+1G>A
NM_001378615.1(CC2D2A):c.3183-1G>T rs1719930798
NM_001378615.1(CC2D2A):c.3289-2A>C
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys) rs2109070604
NM_001378615.1(CC2D2A):c.336+1G>C
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.337-2A>C
NM_001378615.1(CC2D2A):c.3399-1G>C
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3495+1G>A
NM_001378615.1(CC2D2A):c.3595-1G>T
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu) rs1720595936
NM_001378615.1(CC2D2A):c.3975+1G>T
NM_001378615.1(CC2D2A):c.3975+2T>G
NM_001378615.1(CC2D2A):c.4065+1G>A
NM_001378615.1(CC2D2A):c.4065+1G>T
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4066-1G>A rs867390302
NM_001378615.1(CC2D2A):c.4179+1G>A rs886044295
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4303_4314+1del
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
NM_001378615.1(CC2D2A):c.540+1G>A rs1296652053
NM_001378615.1(CC2D2A):c.717+1G>A
NM_001378615.1(CC2D2A):c.717+1G>T rs1027674181
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs) rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
NM_001384732.1(CPLANE1):c.5738-2A>G rs565629362
NM_001384732.1(CPLANE1):c.7588+3A>G
NM_003611.3(OFD1):c.1220_1221+1del
NM_003611.3(OFD1):c.1221_1221+13del rs2147016815
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.2388-1G>A
NM_003611.3(OFD1):c.2489-2A>C
NM_003611.3(OFD1):c.2600-5_2600del
NM_003611.3(OFD1):c.2758-2A>T
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter) rs864309712
NM_015272.5(RPGRIP1L):c.1030-1G>T rs2151236867
NM_015272.5(RPGRIP1L):c.1104-2A>G
NM_015272.5(RPGRIP1L):c.1243+2T>G
NM_015272.5(RPGRIP1L):c.1350+1G>A rs761435025
NM_015272.5(RPGRIP1L):c.1350+1G>T
NM_015272.5(RPGRIP1L):c.1351-2A>C
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1581+1G>A
NM_015272.5(RPGRIP1L):c.1581+2T>C
NM_015272.5(RPGRIP1L):c.1582-1G>C rs750917538
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
NM_015272.5(RPGRIP1L):c.2152+1G>C rs1006433886
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp) rs546150528
NM_015272.5(RPGRIP1L):c.230+1G>T
NM_015272.5(RPGRIP1L):c.2304+1G>A
NM_015272.5(RPGRIP1L):c.2683+1G>T
NM_015272.5(RPGRIP1L):c.2683+2T>C
NM_015272.5(RPGRIP1L):c.2684-1G>A rs2151060257
NM_015272.5(RPGRIP1L):c.2875-2A>G
NM_015272.5(RPGRIP1L):c.2958+1G>A
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.2959-16_2960del
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter) rs1057520162
NM_015272.5(RPGRIP1L):c.3295-2A>G rs1258182460
NM_015272.5(RPGRIP1L):c.3432+1G>A
NM_015272.5(RPGRIP1L):c.3432+1G>T
NM_015272.5(RPGRIP1L):c.3432+2T>C
NM_015272.5(RPGRIP1L):c.3433-1G>A
NM_015272.5(RPGRIP1L):c.3433-7_3436del rs2150964847
NM_015272.5(RPGRIP1L):c.3616+1G>A rs1964549409
NM_015272.5(RPGRIP1L):c.3616+2T>C
NM_015272.5(RPGRIP1L):c.3616+2del rs1964549329
NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
NM_015272.5(RPGRIP1L):c.529+1G>A
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.632+1G>A rs1376397728
NM_015272.5(RPGRIP1L):c.632+1G>T
NM_015272.5(RPGRIP1L):c.632+2T>C rs2151325186
NM_015272.5(RPGRIP1L):c.633-1G>C rs2151318564
NM_015272.5(RPGRIP1L):c.776+1G>C
NM_015272.5(RPGRIP1L):c.776+2T>C rs2151317483
NM_015272.5(RPGRIP1L):c.85+2del
NM_015272.5(RPGRIP1L):c.883-2A>G rs1598375731
NM_015681.6(B9D1):c.342-1G>T
NM_015681.6(B9D1):c.472G>A (p.Val158Met)
NM_017777.4(MKS1):c.1025-2A>G
NM_017777.4(MKS1):c.1095+2T>C rs2143756871
NM_017777.4(MKS1):c.1166-1G>C rs776174898
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1399_1407+4del rs2143742869
NM_017777.4(MKS1):c.1407+1G>A rs1567795088
NM_017777.4(MKS1):c.1408-2_1408-1del
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1490+1G>T
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
NM_017777.4(MKS1):c.1589-2A>G
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.240G>T (p.Trp80Cys) rs1114167302
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.528_644+12del
NM_017777.4(MKS1):c.81-2A>G
NM_017777.4(MKS1):c.81-2A>T rs756709080
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.859-2A>C
NM_017777.4(MKS1):c.859-2A>T
NM_017777.4(MKS1):c.959-1G>A
NM_017777.4(MKS1):c.959-2A>G rs1273591389
NM_019892.6(INPP5E):c.1034+2T>A
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu) rs1835755632
NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)
NM_019892.6(INPP5E):c.1280-2A>C
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn) rs1835733198
NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)
NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)
NM_019892.6(INPP5E):c.1432_1433del (p.Phe478fs)
NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)
NM_019892.6(INPP5E):c.1483C>T (p.Gln495Ter)
NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg) rs2131605763
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)
NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr) rs756888841
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
NM_019892.6(INPP5E):c.177del (p.Ser59fs)
NM_019892.6(INPP5E):c.1780A>T (p.Lys594Ter)
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu) rs1588830568
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter) rs763184652
NM_019892.6(INPP5E):c.208_214dup (p.Pro72fs)
NM_019892.6(INPP5E):c.367_368delinsA (p.Ala123fs)
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer) rs779450345
NM_019892.6(INPP5E):c.66dup (p.Leu23fs)
NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)
NM_024809.5(TCTN2):c.1033+1G>A
NM_024809.5(TCTN2):c.1312+1G>C
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
NM_024809.5(TCTN2):c.1770-2A>G rs1566265412
NM_024809.5(TCTN2):c.268-2A>G
NM_024809.5(TCTN2):c.565-1G>A
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.765-1G>A
NM_024809.5(TCTN2):c.765-1G>C
NM_024809.5(TCTN2):c.82+1G>T
NM_024809.5(TCTN2):c.83-2A>G
NM_024809.5(TCTN2):c.891+1G>A
NM_025114.4(CEP290):c.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1065+1G>A
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.2041_2052+23del rs2137779120
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2052+4A>T
NM_025114.4(CEP290):c.2217+1G>T
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2367+2T>C rs2137707354
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.250+1G>A
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.2586_2586+4del
NM_025114.4(CEP290):c.2817+1G>T
NM_025114.4(CEP290):c.2992-2A>C
NM_025114.4(CEP290):c.3103+1G>A
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3461+2_3461+3delinsGT
NM_025114.4(CEP290):c.3574-1G>A
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4194+1G>C
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.4704+1G>A
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.4812+1G>A rs2137167420
NM_025114.4(CEP290):c.4812+1G>T
NM_025114.4(CEP290):c.4813-1G>C
NM_025114.4(CEP290):c.5013-1G>A
NM_025114.4(CEP290):c.5013-2A>C
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.5227-2A>G
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5587-14_5588del
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5856-1_5856delinsTT rs2136958216
NM_025114.4(CEP290):c.5856-2A>C
NM_025114.4(CEP290):c.6011+2T>G
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6818+2T>C
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del
NM_025114.4(CEP290):c.7130-1G>A
NM_025114.4(CEP290):c.832_852+19del rs2138082472
NM_025114.4(CEP290):c.853-2A>G
NM_025114.4(CEP290):c.853-2A>T
NM_025114.4(CEP290):c.942+1G>A rs2039897317
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.943-1G>A rs2138025029
NM_025114.4(CEP290):c.943-1G>C rs2138025029
NM_025139.4(ARMC9):c.1211_1334del
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.1066-1G>A
NM_153704.6(TMEM67):c.1066-1G>T
NM_153704.6(TMEM67):c.1132-1G>T
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.1175C>T (p.Pro392Leu)
NM_153704.6(TMEM67):c.1288+1G>A
NM_153704.6(TMEM67):c.1289-16_1289-12del
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1518+2T>C
NM_153704.6(TMEM67):c.1576-2del
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
NM_153704.6(TMEM67):c.1646G>T (p.Arg549Leu)
NM_153704.6(TMEM67):c.1674+1G>A rs1211156516
NM_153704.6(TMEM67):c.1675-1G>T
NM_153704.6(TMEM67):c.1773+1G>T
NM_153704.6(TMEM67):c.1774-6_1774-3inv
NM_153704.6(TMEM67):c.1861-1G>A
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val) rs863225238
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2322+1G>T
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2764+2T>G
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
NM_153704.6(TMEM67):c.406+1G>A
NM_153704.6(TMEM67):c.407-1G>T
NM_153704.6(TMEM67):c.407-2A>G rs2130576231
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_153704.6(TMEM67):c.576+2T>C
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) rs1589150410
Single allele

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