ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 785
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_005559.4(LAMA1):c.858+1G>T rs141914419 0.00012
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_001368809.2(AMPD2):c.520G>T (p.Glu174Ter) rs753591864 0.00008
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00006
NM_016955.4(SEPSECS):c.1A>G (p.Met1Val) rs1025711998 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) rs201386427 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) rs745870736 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) rs368182654 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_025265.4(TSEN2):c.1099+1G>A rs149417061 0.00004
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) rs148670389 0.00004
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) rs372056091 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015891.3(CDC40):c.1505T>G (p.Phe502Cys) rs779945821 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) rs774056037 0.00003
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) rs148067486 0.00003
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001135146.2(SLC39A8):c.112G>C (p.Gly38Arg) rs778210210 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_003384.3(VRK1):c.216+1G>C rs774518440 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_016059.5(PPIL1):c.280+1G>A rs374639625 0.00002
NM_016955.4(SEPSECS):c.389-1G>A rs754373273 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer) rs756101515 0.00002
NM_025077.4(TOE1):c.1018C>T (p.Arg340Ter) rs761932920 0.00002
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) rs755246924 0.00002
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln) rs576405108 0.00002
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter) rs201237799 0.00002
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) rs758716466 0.00002
NM_207346.3(TSEN54):c.371G>T (p.Gly124Val) rs774157225 0.00002
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001128159.3(VPS53):c.1556+5G>A rs587777466 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp) rs776868175 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter) rs1200574734 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003384.3(VRK1):c.889+1G>T rs1482696609 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_005559.4(LAMA1):c.184C>T (p.Arg62Ter) rs758223206 0.00001
NM_005559.4(LAMA1):c.767G>A (p.Arg256His) rs748576952 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459 0.00001
NM_014846.4(WASHC5):c.2505-1G>C rs953586472 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter) rs1774516234 0.00001
NM_016059.5(PPIL1):c.233A>G (p.Tyr78Cys) rs1774173253 0.00001
NM_016059.5(PPIL1):c.379A>G (p.Thr127Ala) rs553128312 0.00001
NM_016059.5(PPIL1):c.392G>A (p.Arg131Gln) rs765668519 0.00001
NM_016111.4(TELO2):c.682+1G>A rs779227414 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) rs761072755 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) rs779387647 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.2104C>T (p.Arg702Ter) rs201401034 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter) rs1437442253 0.00001
NM_018082.6(POLR3B):c.2818-1G>T rs1057520785 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter) rs199728745 0.00001
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) rs764875815 0.00001
NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter) rs1419422047 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020320.5(RARS2):c.1415+2T>C rs772989345 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.297+2T>G rs574343583 0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) rs769045045 0.00001
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter) rs769473411 0.00001
NM_020320.5(RARS2):c.771+2T>G rs771801398 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_025077.4(TOE1):c.237-2A>G rs773776995 0.00001
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) rs371848318 0.00001
NM_025077.4(TOE1):c.518T>G (p.Val173Gly) rs777030573 0.00001
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter) rs752569685 0.00001
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) rs778263701 0.00001
NM_025077.4(TOE1):c.913-2A>G rs779707076 0.00001
NM_025077.4(TOE1):c.955C>T (p.His319Tyr) rs750266350 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 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_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_025233.7(COASY):c.1486-3C>G rs577714887 0.00001
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) rs797046051 0.00001
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) rs376815626 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642 0.00001
NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) rs879253780 0.00001
NM_153240.5(NPHP3):c.2171+1G>A rs1280230808 0.00001
NM_153240.5(NPHP3):c.2311-2A>G rs1332659264 0.00001
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) rs1171657935 0.00001
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000008.10:g.(?_126079753)_(126096155_?)del
NC_000012.11:g.110950633C>G
NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NC_000017.10:g.(?_411907)_(618097_?)del
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NM_000368.5(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000368.5(TSC1):c.107-1G>C
NM_000368.5(TSC1):c.1264-2A>G
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.846del (p.Ala283fs) rs1846010451
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.138+5G>A rs45481400
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3284+1dup
NM_000548.5(TSC2):c.3824del (p.Phe1275fs) rs1185513978
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr) rs45471896
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro) rs2151631825
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.137-2A>G
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.439-33_538del
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs) rs1246937494
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln) rs1556173896
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001128159.3(VPS53):c.1516C>T (p.Arg506Ter) rs200594402
NM_001128159.3(VPS53):c.1704+1G>A
NM_001128159.3(VPS53):c.1787+1G>A
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
NM_001128159.3(VPS53):c.692C>T (p.Pro231Leu) rs1472685858
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter) rs370828258
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter) rs1732173818
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) rs1734625225
NM_001135146.2(SLC39A8):c.338G>C (p.Cys113Ser) rs1444255127
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs) rs2148861371
NM_001199198.3(TBC1D23):c.630del (p.Thr211fs) rs1354130291
NM_001272071.2(AP1S2):c.-1+1G>A rs1934288587
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs) rs1933972061
NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) rs747100389
NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) rs1593037878
NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) rs1593083585
NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) rs763079713
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
NM_001367721.1(CASK):c.1582+1G>A rs2147179060
NM_001367721.1(CASK):c.1583-1G>T
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_001367721.1(CASK):c.173-1G>A
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
NM_001367721.1(CASK):c.2039+1del
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001367721.1(CASK):c.2155+1G>C rs1555977199
NM_001367721.1(CASK):c.2155G>A (p.Val719Met) rs12842195
NM_001367721.1(CASK):c.2156-1G>A rs1569291261
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs) rs1569288603
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) rs1569283243
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
NM_001367721.1(CASK):c.356+1G>T rs2147736023
NM_001367721.1(CASK):c.359A>G (p.His120Arg) rs1602550687
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter) rs2147495562
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter) rs2067016221
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001367721.1(CASK):c.915+1G>A rs2147368049
NM_001368809.2(AMPD2):c.1057C>T (p.Arg353Ter)
NM_001368809.2(AMPD2):c.1408-3_1418del
NM_001368809.2(AMPD2):c.1457G>A (p.Arg486Gln) rs192669225
NM_001368809.2(AMPD2):c.1698+1G>A rs1650988132
NM_001368809.2(AMPD2):c.1858C>A (p.Arg620Ser)
NM_001368809.2(AMPD2):c.1859G>T (p.Arg620Leu) rs587777395
NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His) rs774256040
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu) rs746332433
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro) rs730882250
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter) rs730882245
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter) rs2150954061
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs) rs1579740974
NM_001519.4(BRF1):c.793_794delinsCATTTA (p.Thr265fs) rs2141566255
NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001759.4(CCND2):c.851T>A (p.Val284Glu) rs777786993
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) rs1558939623
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
NM_002547.3(OPHN1):c.1105-13_1109del rs2077502210
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del) rs2078892867
NM_002547.3(OPHN1):c.1202-1G>A rs2147456067
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys) rs1602169116
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_002547.3(OPHN1):c.1526+1G>A rs2147429591
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu) rs2147404496
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn) rs869312676
NM_002547.3(OPHN1):c.597+1del
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.702+4A>G rs2147481894
NM_002547.3(OPHN1):c.702+4A>T rs2147481894
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)
NM_002768.5(CHMP1A):c.28-2A>G
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_003384.2(VRK1):c.318_889+1945del
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter) rs1223645705
NM_003384.3(VRK1):c.1069-2A>G
NM_003384.3(VRK1):c.1094del (p.Ser365fs) rs2139845854
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs) rs2139845924
NM_003384.3(VRK1):c.156_160+3del rs1566696845
NM_003384.3(VRK1):c.160+1G>T rs2139749072
NM_003384.3(VRK1):c.161-2A>G
NM_003384.3(VRK1):c.216+1G>A
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu) rs2139779062
NM_003384.3(VRK1):c.287-2A>C
NM_003384.3(VRK1):c.374+1G>T
NM_003384.3(VRK1):c.402_890-895del
NM_003384.3(VRK1):c.483+1G>A
NM_003384.3(VRK1):c.576+1G>A
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003384.3(VRK1):c.710-1G>A
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly) rs1428656431
NM_003384.3(VRK1):c.812T>C (p.Val271Ala) rs2139804166
NM_003384.3(VRK1):c.830+1G>C
NM_003384.3(VRK1):c.889+1G>A rs1482696609
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter) rs1566713184
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.2387+1G>A rs2047914412
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004897.5(MINPP1):c.1210C>T (p.Arg404Ter) rs1311614264
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp) rs2131792567
NM_004897.5(MINPP1):c.75_94del (p.Leu27fs) rs1323094107
NM_004897.5(MINPP1):c.851C>A (p.Ala284Asp) rs748636033
NM_004897.5(MINPP1):c.940G>T (p.Glu314Ter)
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_004958.4(MTOR):c.1078C>T (p.Arg360Trp)
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) rs2100901805
NM_004958.4(MTOR):c.3945-26_4016dup
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) rs2100609915
NM_004958.4(MTOR):c.4468T>C (p.Trp1490Arg) rs2100566800
NM_004958.4(MTOR):c.4883G>A (p.Arg1628His) rs777925640
NM_004958.4(MTOR):c.5005G>T (p.Ala1669Ser) rs2100477650
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004958.4(MTOR):c.5912C>T (p.Ala1971Val) rs2100414567
NM_004958.4(MTOR):c.6227G>A (p.Arg2076Gln) rs2100402606
NM_004958.4(MTOR):c.6457A>G (p.Ile2153Val) rs2100396600
NM_004958.4(MTOR):c.7292T>C (p.Leu2431Pro) rs1057524044
NM_004958.4(MTOR):c.7500T>G (p.Ile2500Met) rs1057519915
NM_004958.4(MTOR):c.7529G>T (p.Gly2510Val) rs2100280361
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu) rs1568636630
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp) rs1057519801
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly) rs2043757489
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) rs372318863
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005465.7(AKT3):c.230T>A (p.Leu77His) rs2147921662
NM_005465.7(AKT3):c.237G>C (p.Trp79Cys) rs2147921624
NM_005465.7(AKT3):c.548T>A (p.Val183Asp) rs886041100
NM_005465.7(AKT3):c.685A>C (p.Asn229His) rs530590989
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr) rs1064795602
NM_005559.4(LAMA1):c.281A>G (p.Gln94Arg) rs2143782472
NM_005559.4(LAMA1):c.2935del (p.Arg979fs) rs758601967
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
NM_005559.4(LAMA1):c.4763del (p.Tyr1588fs)
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
NM_005559.4(LAMA1):c.5467C>T (p.Gln1823Ter) rs2057730983
NM_005559.4(LAMA1):c.7009dup (p.Ser2337fs) rs2144018381
NM_005559.4(LAMA1):c.7195+2T>A
NM_005559.4(LAMA1):c.7452+1G>A
NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs) rs1555643185
NM_005559.4(LAMA1):c.8208_8214delinsT (p.Lys2736_Ser2738delinsAsn) rs2057544094
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter) rs2143969631
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter) rs1480105908
NM_005559.4(LAMA1):c.876_882delinsCATTTA (p.Glu293fs) rs2058035458
NM_005559.4(LAMA1):c.9197del (p.Phe3066fs) rs1555640521
NM_005614.4(RHEB):c.119A>T (p.Glu40Val) rs1554438588
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) rs2121242709
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006218.4(PIK3CA):c.1090G>A (p.Gly364Arg) rs1576935161
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.1345C>T (p.Pro449Ser) rs1724674149
NM_006218.4(PIK3CA):c.1616C>G (p.Pro539Arg) rs121913285
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.2173G>A (p.Asp725Asn)
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) rs1057519929
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.3127A>C (p.Met1043Leu) rs1057519936
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014846.4(WASHC5):c.1151-2A>G rs1563627853
NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) rs1554593901
NM_014846.4(WASHC5):c.186+1G>C
NM_014846.4(WASHC5):c.2086G>A (p.Gly696Ser) rs1060502725
NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) rs397515564
NM_014846.4(WASHC5):c.2954+3_2954+4delinsGC
NM_014846.4(WASHC5):c.3209del (p.Pro1070fs)
NM_014846.4(WASHC5):c.740G>A (p.Arg247His)
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro) rs1660016633
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.969+2T>G
NM_015631.6(TCTN3):c.970-2A>G rs777263669
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
NM_016042.4(EXOSC3):c.325-1G>T
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs) rs1296865764
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly) rs2118977758
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer) rs1160669103
NM_016042.4(EXOSC3):c.624_626+1del rs769374744
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg) rs672601332
NM_016059.5(PPIL1):c.245T>C (p.Phe82Ser) rs2150653717
NM_016059.5(PPIL1):c.295G>A (p.Ala99Thr) rs199818754
NM_016059.5(PPIL1):c.301_318dup (p.Ala101_Asp106dup) rs2150653427
NM_016059.5(PPIL1):c.319A>G (p.Thr107Ala) rs1583103432
NM_016059.5(PPIL1):c.325G>T (p.Gly109Cys) rs2150653422
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) rs267607036
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) rs781277383
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) rs1309003036
NM_016955.4(SEPSECS):c.388+5G>A rs1057518887
NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter) rs1712612053
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]
NM_018082.6(POLR3B):c.1028T>C (p.Ile343Thr)
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1464+1G>T
NM_018082.6(POLR3B):c.1612_1614del (p.Leu538del) rs797045895
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr) rs2037839447
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
NM_018082.6(POLR3B):c.664C>T (p.Arg222Ter)
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.98-2A>G
NM_019024.3(HEATR5B):c.5050+4A>G rs1667224478
NM_019024.3(HEATR5B):c.5051-1G>A rs1667163007
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.1035+2T>G
NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile) rs1773402352
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) rs756696262
NM_020320.5(RARS2):c.111-2A>G
NM_020320.5(RARS2):c.1113-2A>G
NM_020320.5(RARS2):c.1210A>G (p.Met404Val)
NM_020320.5(RARS2):c.1237+1G>C
NM_020320.5(RARS2):c.1238-2A>G rs1167507020
NM_020320.5(RARS2):c.1261C>T (p.Gln421Ter)
NM_020320.5(RARS2):c.1305+2T>C
NM_020320.5(RARS2):c.1306-1G>A
NM_020320.5(RARS2):c.1315_1318del (p.Gly439fs)
NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)
NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs) rs1064795060
NM_020320.5(RARS2):c.1357_1358del (p.Phe453fs)
NM_020320.5(RARS2):c.1381_1385del (p.Val461fs)
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) rs753312969
NM_020320.5(RARS2):c.1415+1G>A
NM_020320.5(RARS2):c.1416-2A>C rs2127999204
NM_020320.5(RARS2):c.1423G>T (p.Glu475Ter) rs886041639
NM_020320.5(RARS2):c.1425_1426del (p.Glu475fs)
NM_020320.5(RARS2):c.1471C>T (p.Gln491Ter)
NM_020320.5(RARS2):c.1480_1481del (p.Gln494fs) rs776309120
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
NM_020320.5(RARS2):c.1511+1G>A rs1772453347
NM_020320.5(RARS2):c.1512-1G>A
NM_020320.5(RARS2):c.1533del (p.Lys511fs) rs2127994036
NM_020320.5(RARS2):c.1549C>T (p.Gln517Ter)
NM_020320.5(RARS2):c.1554del (p.Arg519fs) rs754610170
NM_020320.5(RARS2):c.1568_1569delinsC (p.Ser523fs)
NM_020320.5(RARS2):c.156dup (p.Asp53fs)
NM_020320.5(RARS2):c.1583dup (p.Leu528fs)
NM_020320.5(RARS2):c.1612del (p.Thr538fs) rs781417096
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs) rs757778880
NM_020320.5(RARS2):c.1629_1630del (p.Asp543fs)
NM_020320.5(RARS2):c.1650+1G>T
NM_020320.5(RARS2):c.176_177del (p.Pro59fs)
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.233_234del (p.Val78fs) rs1582712331
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.277_280del (p.Asn93fs) rs1326705217
NM_020320.5(RARS2):c.282_285del (p.Arg94fs) rs767056243
NM_020320.5(RARS2):c.284_285del (p.Glu95fs) rs767056243
NM_020320.5(RARS2):c.297+1G>C
NM_020320.5(RARS2):c.297+1G>T
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.333del (p.Lys111fs)
NM_020320.5(RARS2):c.347_348delinsCTTATTAA (p.Ser116delinsThrTyrTer)
NM_020320.5(RARS2):c.36+1G>T
NM_020320.5(RARS2):c.36+2T>A
NM_020320.5(RARS2):c.370del (p.Gln124fs) rs1554203400
NM_020320.5(RARS2):c.379_385del (p.Ile127fs)
NM_020320.5(RARS2):c.395+1G>A
NM_020320.5(RARS2):c.42del (p.Arg15fs) rs777942571
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) rs1582576986
NM_020320.5(RARS2):c.452-1G>A
NM_020320.5(RARS2):c.45_46del (p.Arg15fs)
NM_020320.5(RARS2):c.474_477del (p.Glu159fs) rs774755297
NM_020320.5(RARS2):c.535+2T>G
NM_020320.5(RARS2):c.536-1G>A
NM_020320.5(RARS2):c.53_60del (p.Asn18fs)
NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)
NM_020320.5(RARS2):c.610_612+2del
NM_020320.5(RARS2):c.613-3927C>T rs1410239766
NM_020320.5(RARS2):c.617del (p.Tyr206fs)
NM_020320.5(RARS2):c.633_636del (p.Glu212fs) rs755936301
NM_020320.5(RARS2):c.699_700insACATC (p.Asp234fs) rs745829550
NM_020320.5(RARS2):c.70_77del (p.Leu24fs)
NM_020320.5(RARS2):c.716C>G (p.Ser239Ter) rs750319167
NM_020320.5(RARS2):c.723G>A (p.Trp241Ter)
NM_020320.5(RARS2):c.772-1G>A rs2128057942
NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)
NM_020320.5(RARS2):c.829C>T (p.Gln277Ter)
NM_020320.5(RARS2):c.839T>G (p.Leu280Ter) rs1256144022
NM_020320.5(RARS2):c.878+5G>T
NM_020320.5(RARS2):c.928dup (p.Ile310fs) rs1360282089
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs) rs773838753
NM_020320.5(RARS2):c.997C>T (p.Arg333Ter) rs927427873
NM_020320.5(RARS2):c.998del (p.Arg333fs)
NM_020320.5(RARS2):c.9C>A (p.Cys3Ter) rs762495974
NM_021926.4(ALX4):c.16dup (p.Cys6fs) rs746479735
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
NM_025077.4(TOE1):c.1062del (p.Thr355fs) rs2149260739
NM_025077.4(TOE1):c.1487C>T (p.Ser496Phe) rs1570626350
NM_025077.4(TOE1):c.551G>T (p.Arg184Leu) rs267598623
NM_025077.4(TOE1):c.658G>A (p.Glu220Lys) rs1570621473
NM_025077.4(TOE1):c.693T>A (p.Tyr231Ter) rs1570621555
NM_025077.4(TOE1):c.937C>G (p.Pro313Ala) rs1557531984
NM_025077.4(TOE1):c.957C>T (p.His319=) rs758153898
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025265.4(TSEN2):c.1037A>G (p.Tyr346Cys) rs1477347690
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del) rs797046052
NM_025265.4(TSEN2):c.904G>A (p.Glu302Lys) rs1553587071
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) rs1114167296
NM_033026.6(PCLO):c.2532dup (p.Gln845fs) rs1584071201
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter) rs1561602892
NM_139058.3(ARX):c.994C>T (p.Arg332Cys) rs2147323593
NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs) rs1404621140
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del) rs1456714047
NM_153240.5(NPHP3):c.1985+1G>A rs1553773271
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) rs775281384
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del) rs119456959
NM_153240.5(NPHP3):c.634dup (p.Glu212fs) rs747052534
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_153816.6(SNX14):c.1725del (p.Phe575fs) rs1311909367
NM_153816.6(SNX14):c.2746-2A>G
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
NM_153816.6(SNX14):c.462-589A>G
NM_177433.3(MAGED2):c.1003del (p.Gln335fs) rs1114167295
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) rs1588563037
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs) rs773616244
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del) rs764339075
NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter) rs2130127564
NM_207346.3(TSEN54):c.1216dup (p.Thr406fs) rs2053437943
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) rs587784476
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro) rs587784477
NM_207346.3(TSEN54):c.1535T>C (p.Phe512Ser) rs1598480419
NM_207346.3(TSEN54):c.1535del (p.Phe512fs) rs2147019791
NM_207346.3(TSEN54):c.249G>A (p.Arg83=) rs2147006296
NM_207346.3(TSEN54):c.621_623+9del
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
TSEN54:c.[277T>C;919G>T]

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