ClinVar Miner

List of variants reported as benign for Joubert syndrome by Invitae

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 369
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HGVS dbSNP
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1830G>A (p.Pro610=) rs185072004
NM_001080522.2(CC2D2A):c.1956G>A (p.Pro652=) rs375131519
NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.2475C>T (p.Ile825=) rs113835820
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001080522.2(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=) rs368942099
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929
NM_001134831.2(AHI1):c.2961+9del rs756875846
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3329-7A>G rs370808684
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.932-10A>G rs114319588
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_001134831.2(AHI1):c.990T>C (p.Asp330=) rs376654503
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val) rs144635826
NM_001165927.1(MKS1):c.1641G>C (p.Leu547=) rs11548967
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.231+7C>T rs200156751
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001173990.3(TMEM216):c.-2G>T rs7107543
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198
NM_001378615.1(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_002601.4(PDE6D):c.371+8A>C rs75242814
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.1129+8T>A rs199572133
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.936-2A>G rs199902986
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met) rs138897239
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) rs148465057
NM_014704.4(CEP104):c.2124A>G (p.Ala708=) rs139817583
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991
NM_014704.4(CEP104):c.2736C>T (p.Gly912=) rs148360595
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr) rs76925798
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser) rs140856596
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578
NM_014704.4(CEP104):c.588G>A (p.Pro196=) rs141751043
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=) rs569208946
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp) rs537925312
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=) rs532450170
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.6(TCTN3):c.1591-5C>T rs181107730
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015631.6(TCTN3):c.500-6T>C rs201444392
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015631.6(TCTN3):c.889-8G>A rs374331871
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130
NM_015681.5(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.5(B9D1):c.237C>G (p.Pro79=) rs149051059
NM_015681.5(B9D1):c.516C>T (p.Asn172=) rs149758860
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8C>T rs73566945
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1136C>T (p.Thr379Met) rs373606997
NM_023073.3(CPLANE1):c.1173T>G (p.Ala391=) rs61733482
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
NM_023073.3(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362
NM_023073.3(CPLANE1):c.4947A>G (p.Ser1649=) rs554711652
NM_023073.3(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5820+7C>T rs185534019
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_023073.3(CPLANE1):c.6860G>A (p.Ser2287Asn) rs147451628
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.8013A>C (p.Ala2671=) rs201122718
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8406G>C (p.Val2802=) rs145215555
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8628C>T (p.Ser2876=) rs148005445
NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=) rs141014620
NM_023073.3(CPLANE1):c.8976C>G (p.Pro2992=) rs16903511
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.994A>G (p.Met332Val) rs369404481
NM_024790.6(CSPP1):c.1376C>G (p.Ser459Cys) rs146431326
NM_024790.6(CSPP1):c.1506C>T (p.Pro502=) rs199923715
NM_024790.6(CSPP1):c.154T>C (p.Leu52=) rs150924296
NM_024790.6(CSPP1):c.1783C>G (p.Gln595Glu) rs73693125
NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.2377-8_2377-4del rs528357182
NM_024790.6(CSPP1):c.30A>G (p.Val10=) rs181470846
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3150T>C (p.Asp1050=) rs10112748
NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) rs201008264
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440
NM_024790.6(CSPP1):c.951-9G>A rs199910808
NM_024790.6(CSPP1):c.992A>G (p.His331Arg) rs141389465
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu) rs199931630
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5227-9A>G rs571981633
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371
NM_025114.4(CEP290):c.6960+10G>A rs75011402
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.4(CEP290):c.7392_7393AG[1] (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317
NM_030578.4(B9D2):c.88+6C>T rs112498529
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.6(TMEM67):c.2440-6T>C rs532418578
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208

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