ClinVar Miner

List of variants studied for central nervous system malformation by Baylor Genetics

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 655
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HGVS dbSNP gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_005559.4(LAMA1):c.8253G>A (p.Leu2751=) rs139713073 0.00271
NM_005559.4(LAMA1):c.1792G>C (p.Glu598Gln) rs116690149 0.00203
NM_033026.6(PCLO):c.1297G>A (p.Ala433Thr) rs201344475 0.00180
NM_033026.6(PCLO):c.9373G>A (p.Asp3125Asn) rs145077014 0.00140
NM_033026.6(PCLO):c.8069G>A (p.Gly2690Asp) rs184748520 0.00133
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) rs187184327 0.00114
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_033026.6(PCLO):c.5267G>A (p.Arg1756His) rs139451754 0.00096
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_033026.6(PCLO):c.13571C>T (p.Pro4524Leu) rs181317757 0.00076
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) rs141213887 0.00066
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala) rs145464176 0.00048
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_005559.4(LAMA1):c.1619C>T (p.Pro540Leu) rs140908403 0.00041
NM_005559.4(LAMA1):c.3687+4A>C rs7226848 0.00039
NM_005559.4(LAMA1):c.7187G>A (p.Arg2396Gln) rs200776408 0.00038
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser) rs372234497 0.00029
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_005559.4(LAMA1):c.3745G>A (p.Val1249Ile) rs148225763 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_005559.4(LAMA1):c.7181G>A (p.Arg2394Gln) rs140792199 0.00025
NM_005559.4(LAMA1):c.371T>C (p.Ile124Thr) rs200657079 0.00024
NM_005559.4(LAMA1):c.4204C>T (p.Pro1402Ser) rs202133880 0.00024
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615 0.00020
NM_005559.4(LAMA1):c.6779C>A (p.Ser2260Tyr) rs146652610 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_207346.3(TSEN54):c.1057C>T (p.Arg353Trp) rs200540627 0.00013
NM_002768.5(CHMP1A):c.204C>T (p.Arg68=) rs199628110 0.00012
NM_016111.4(TELO2):c.1129C>T (p.Arg377Trp) rs200293618 0.00012
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_005559.4(LAMA1):c.2524C>T (p.Pro842Ser) rs149208354 0.00011
NM_006831.3(CLP1):c.178G>T (p.Gly60Cys) rs200305079 0.00011
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_025265.4(TSEN2):c.971C>T (p.Thr324Met) rs772061041 0.00010
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter) rs267606916 0.00010
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001128159.3(VPS53):c.2365C>G (p.Leu789Val) rs1010638222 0.00009
NM_014875.3(KIF14):c.1147A>G (p.Met383Val) rs371446188 0.00008
NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser) rs370591311 0.00008
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_207346.3(TSEN54):c.1035G>C (p.Lys345Asn) rs376308638 0.00007
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) rs202043298 0.00006
NM_018082.6(POLR3B):c.2407A>G (p.Ile803Val) rs372387469 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_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_005559.4(LAMA1):c.8263A>G (p.Met2755Val) rs373014487 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_033026.6(PCLO):c.3367C>T (p.Arg1123Cys) rs562725219 0.00005
NM_153816.6(SNX14):c.140+9G>A rs751616334 0.00005
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_001135146.2(SLC39A8):c.923C>T (p.Thr308Met) rs376000562 0.00004
NM_005559.4(LAMA1):c.1846G>A (p.Gly616Arg) rs146460281 0.00004
NM_005559.4(LAMA1):c.6050C>T (p.Ser2017Phe) rs778208901 0.00004
NM_018082.6(POLR3B):c.3098+8A>G rs753390602 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_033026.6(PCLO):c.1585C>A (p.Pro529Thr) rs895119524 0.00004
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.5041A>G (p.Asn1681Asp) rs1200837034 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_003384.3(VRK1):c.356A>G (p.His119Arg) rs371295780 0.00003
NM_004958.4(MTOR):c.841-6A>G rs539605016 0.00003
NM_005559.4(LAMA1):c.4555G>C (p.Gly1519Arg) rs747710308 0.00003
NM_014846.4(WASHC5):c.2257C>T (p.Arg753Cys) rs780719370 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 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_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_207346.3(TSEN54):c.637A>G (p.Lys213Glu) rs184421010 0.00003
NM_000548.5(TSC2):c.215A>G (p.Lys72Arg) rs1489623582 0.00002
NM_000548.5(TSC2):c.2534A>G (p.Glu845Gly) rs764608837 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) rs1065764 0.00002
NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile) rs750802296 0.00002
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) rs778840618 0.00002
NM_006831.3(CLP1):c.310C>G (p.Arg104Gly) rs994445804 0.00002
NM_014008.5(CCDC22):c.1610C>T (p.Ala537Val) rs782683625 0.00002
NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer) rs756101515 0.00002
NM_025077.4(TOE1):c.1159G>A (p.Asp387Asn) rs140119746 0.00002
NM_033026.6(PCLO):c.4697A>G (p.Asp1566Gly) rs748686744 0.00002
NM_153240.5(NPHP3):c.2112T>C (p.Cys704=) rs761833505 0.00002
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) rs556044910 0.00002
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) rs200881798 0.00002
NM_207346.3(TSEN54):c.808C>T (p.Pro270Ser) rs758853965 0.00002
NM_000368.5(TSC1):c.106+4A>G rs373075566 0.00001
NM_000368.5(TSC1):c.1263+5G>A rs767745683 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1816C>T (p.His606Tyr) rs1343881428 0.00001
NM_000368.5(TSC1):c.1818T>A (p.His606Gln) rs758769193 0.00001
NM_000368.5(TSC1):c.2726T>C (p.Ile909Thr) rs1374339026 0.00001
NM_000368.5(TSC1):c.3023A>G (p.Asn1008Ser) rs1263094349 0.00001
NM_000368.5(TSC1):c.3062C>T (p.Pro1021Leu) rs1845082733 0.00001
NM_000368.5(TSC1):c.312G>T (p.Lys104Asn) rs1554820281 0.00001
NM_000368.5(TSC1):c.3151C>T (p.Pro1051Ser) rs1210523479 0.00001
NM_000368.5(TSC1):c.3274G>A (p.Ala1092Thr) rs747053008 0.00001
NM_000368.5(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082 0.00001
NM_000368.5(TSC1):c.3478C>T (p.His1160Tyr) rs1470270925 0.00001
NM_000368.5(TSC1):c.371C>G (p.Thr124Ser) rs747251435 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.70G>A (p.Asp24Asn) rs984306144 0.00001
NM_000368.5(TSC1):c.809C>T (p.Ser270Leu) rs878853968 0.00001
NM_000368.5(TSC1):c.899C>T (p.Thr300Ile) rs370916731 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1389C>G (p.Ile463Met) rs1188230416 0.00001
NM_000548.5(TSC2):c.1946+9G>T rs1470276886 0.00001
NM_000548.5(TSC2):c.2144A>C (p.Glu715Ala) rs763351805 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2732T>G (p.Phe911Cys) rs774758044 0.00001
NM_000548.5(TSC2):c.2877C>G (p.Asn959Lys) rs147523833 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2956G>A (p.Val986Met) rs765489754 0.00001
NM_000548.5(TSC2):c.2971A>G (p.Ile991Val) rs369524855 0.00001
NM_000548.5(TSC2):c.3391A>G (p.Met1131Val) rs775639244 0.00001
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876 0.00001
NM_000548.5(TSC2):c.3940C>G (p.Pro1314Ala) rs771499212 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4210A>G (p.Lys1404Glu) rs1384101814 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4570-1G>A rs777985056 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp) rs777592623 0.00001
NM_000548.5(TSC2):c.4886A>G (p.Asp1629Gly) rs767444397 0.00001
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185 0.00001
NM_000548.5(TSC2):c.5254C>G (p.Gln1752Glu) rs45517414 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_001128159.3(VPS53):c.2329G>C (p.Gly777Arg) rs1191869765 0.00001
NM_001128159.3(VPS53):c.2420T>C (p.Leu807Pro) rs771439682 0.00001
NM_001128159.3(VPS53):c.959T>G (p.Phe320Cys) rs1302881349 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 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.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 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_001199198.3(TBC1D23):c.1327G>A (p.Asp443Asn) rs1336318830 0.00001
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395 0.00001
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850 0.00001
NM_002547.3(OPHN1):c.1201+3A>G rs1482683297 0.00001
NM_002768.5(CHMP1A):c.*93G>A rs542215121 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_004958.4(MTOR):c.1244A>G (p.Asp415Gly) rs1288219609 0.00001
NM_005559.4(LAMA1):c.1862C>T (p.Thr621Ile) rs1372291355 0.00001
NM_005559.4(LAMA1):c.2274+3G>T rs1346412853 0.00001
NM_005559.4(LAMA1):c.2856C>G (p.Asn952Lys) rs576734629 0.00001
NM_005559.4(LAMA1):c.3191A>C (p.Gln1064Pro) rs535850595 0.00001
NM_005559.4(LAMA1):c.5584A>G (p.Arg1862Gly) rs773614520 0.00001
NM_005559.4(LAMA1):c.5660+5G>T rs767853385 0.00001
NM_005559.4(LAMA1):c.7124C>T (p.Thr2375Ile) rs533138285 0.00001
NM_006831.3(CLP1):c.427C>T (p.Arg143Cys) rs957840738 0.00001
NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln) rs782726788 0.00001
NM_014875.3(KIF14):c.4385G>A (p.Gly1462Glu) rs759119778 0.00001
NM_016111.4(TELO2):c.2003G>A (p.Arg668Gln) rs150934316 0.00001
NM_016955.4(SEPSECS):c.1148dup (p.His383fs) rs761072755 0.00001
NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys) rs373439857 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter) rs199728745 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.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_020320.5(RARS2):c.879-1G>C rs1428801547 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_033026.6(PCLO):c.10780A>G (p.Thr3594Ala) rs1479830877 0.00001
NM_033026.6(PCLO):c.11671T>C (p.Ser3891Pro) rs761884390 0.00001
NM_033026.6(PCLO):c.9494T>C (p.Leu3165Ser) rs371068804 0.00001
NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu) rs1303757034 0.00001
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) rs777542453 0.00001
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) rs758491411 0.00001
NM_000368.5(TSC1):c.1004C>T (p.Thr335Ile) rs1845955010
NM_000368.5(TSC1):c.1022C>T (p.Pro341Leu) rs1588324106
NM_000368.5(TSC1):c.1030-5C>G rs1588323218
NM_000368.5(TSC1):c.107-1G>C
NM_000368.5(TSC1):c.1076C>T (p.Pro359Leu)
NM_000368.5(TSC1):c.1145G>A (p.Gly382Asp) rs1460150475
NM_000368.5(TSC1):c.1186C>T (p.Pro396Ser) rs1845904238
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1264-2A>G
NM_000368.5(TSC1):c.1282_1283delinsCT (p.Ala428Leu) rs587778721
NM_000368.5(TSC1):c.1291T>C (p.Cys431Arg) rs762688935
NM_000368.5(TSC1):c.1430A>C (p.Lys477Thr) rs1554816213
NM_000368.5(TSC1):c.1465A>T (p.Ile489Phe) rs1564482602
NM_000368.5(TSC1):c.1510G>T (p.Asp504Tyr)
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.173T>C (p.Leu58Ser)
NM_000368.5(TSC1):c.1805C>T (p.Pro602Leu) rs1588309097
NM_000368.5(TSC1):c.1808C>G (p.Pro603Arg) rs751247705
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1868A>G (p.Lys623Arg)
NM_000368.5(TSC1):c.1937T>C (p.Met646Thr) rs1588308288
NM_000368.5(TSC1):c.1966G>A (p.Gly656Arg)
NM_000368.5(TSC1):c.203A>T (p.His68Leu)
NM_000368.5(TSC1):c.2042-2A>G rs118203628
NM_000368.5(TSC1):c.2047CCT[1] (p.Pro684del) rs397514799
NM_000368.5(TSC1):c.2051C>G (p.Pro684Arg) rs1845511359
NM_000368.5(TSC1):c.2077G>A (p.Asp693Asn)
NM_000368.5(TSC1):c.2093T>C (p.Leu698Pro)
NM_000368.5(TSC1):c.2102A>G (p.Gln701Arg)
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer) rs118203645
NM_000368.5(TSC1):c.2117G>A (p.Arg706His) rs1588304158
NM_000368.5(TSC1):c.2153G>A (p.Arg718Gln) rs1060503207
NM_000368.5(TSC1):c.2173A>G (p.Lys725Glu)
NM_000368.5(TSC1):c.2182G>A (p.Ala728Thr) rs1845494587
NM_000368.5(TSC1):c.2185C>G (p.Leu729Val)
NM_000368.5(TSC1):c.2191G>A (p.Glu731Lys)
NM_000368.5(TSC1):c.2208+7A>T
NM_000368.5(TSC1):c.225G>C (p.Arg75Ser)
NM_000368.5(TSC1):c.2284A>G (p.Asn762Asp) rs1264839312
NM_000368.5(TSC1):c.2299C>G (p.Gln767Glu) rs118203675
NM_000368.5(TSC1):c.2470A>C (p.Thr824Pro)
NM_000368.5(TSC1):c.2470A>G (p.Thr824Ala) rs1554814639
NM_000368.5(TSC1):c.247G>C (p.Ala83Pro) rs76667066
NM_000368.5(TSC1):c.2572G>A (p.Val858Ile) rs1845329722
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2830G>T (p.Ala944Ser) rs751362258
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2986T>G (p.Cys996Gly) rs1554813029
NM_000368.5(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.5(TSC1):c.3104G>A (p.Gly1035Asp) rs1176815392
NM_000368.5(TSC1):c.3190_3192del (p.Glu1064del)
NM_000368.5(TSC1):c.3224C>G (p.Pro1075Arg)
NM_000368.5(TSC1):c.323C>T (p.Ser108Phe)
NM_000368.5(TSC1):c.3274G>T (p.Ala1092Ser) rs747053008
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3292A>G (p.Asn1098Asp)
NM_000368.5(TSC1):c.3415C>T (p.His1139Tyr) rs1845031012
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr) rs2131585152
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
NM_000368.5(TSC1):c.396C>T (p.Gly132=) rs368922726
NM_000368.5(TSC1):c.475G>A (p.Gly159Ser) rs1846672854
NM_000368.5(TSC1):c.496C>G (p.Leu166Val)
NM_000368.5(TSC1):c.507A>G (p.Pro169=) rs1846669296
NM_000368.5(TSC1):c.526T>C (p.Tyr176His)
NM_000368.5(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.5(TSC1):c.611G>A (p.Arg204His) rs397514834
NM_000368.5(TSC1):c.664-43C>G
NM_000368.5(TSC1):c.796C>G (p.Pro266Ala)
NM_000368.5(TSC1):c.845C>T (p.Ser282Leu) rs118203459
NM_000368.5(TSC1):c.890A>C (p.Tyr297Ser)
NM_000368.5(TSC1):c.97C>T (p.Leu33Phe) rs1847031671
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.1004C>G (p.Ser335Cys) rs45517144
NM_000548.5(TSC2):c.1024A>C (p.Ile342Leu)
NM_000548.5(TSC2):c.1057C>G (p.Leu353Val) rs902767624
NM_000548.5(TSC2):c.1115T>C (p.Leu372Pro) rs1060500919
NM_000548.5(TSC2):c.1180C>A (p.Leu394Met) rs1409309186
NM_000548.5(TSC2):c.1180C>G (p.Leu394Val) rs1409309186
NM_000548.5(TSC2):c.1195G>A (p.Glu399Lys) rs773920155
NM_000548.5(TSC2):c.1202A>C (p.His401Pro) rs2086691569
NM_000548.5(TSC2):c.1214A>G (p.Glu405Gly) rs1057518321
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter) rs397514897
NM_000548.5(TSC2):c.1257+172C>G
NM_000548.5(TSC2):c.1258-6T>A
NM_000548.5(TSC2):c.125C>G (p.Ala42Gly)
NM_000548.5(TSC2):c.1295A>G (p.Gln432Arg)
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1317C>A (p.Asp439Glu) rs777457815
NM_000548.5(TSC2):c.1356C>A (p.Phe452Leu) rs769147552
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1385G>A (p.Arg462His) rs45494392
NM_000548.5(TSC2):c.142C>G (p.Leu48Val) rs1486839704
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1481C>A (p.Ser494Tyr)
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.153A>T (p.Glu51Asp) rs746366461
NM_000548.5(TSC2):c.1559A>G (p.His520Arg) rs1220672669
NM_000548.5(TSC2):c.1589T>C (p.Ile530Thr) rs2151191974
NM_000548.5(TSC2):c.1601T>G (p.Val534Gly) rs924098595
NM_000548.5(TSC2):c.1625C>T (p.Pro542Leu) rs764191178
NM_000548.5(TSC2):c.1663G>C (p.Ala555Pro) rs763183991
NM_000548.5(TSC2):c.1717A>C (p.Thr573Pro)
NM_000548.5(TSC2):c.1735C>T (p.Pro579Ser) rs45517196
NM_000548.5(TSC2):c.1786C>T (p.Leu596Phe)
NM_000548.5(TSC2):c.1828A>G (p.Ile610Val) rs1285778253
NM_000548.5(TSC2):c.183A>G (p.Ile61Met) rs2084961841
NM_000548.5(TSC2):c.1867G>A (p.Ala623Thr)
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1933G>T (p.Val645Phe) rs746677177
NM_000548.5(TSC2):c.1955A>T (p.Glu652Val)
NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) rs794727221
NM_000548.5(TSC2):c.2008C>G (p.Pro670Ala) rs1338802781
NM_000548.5(TSC2):c.2039G>T (p.Arg680Leu) rs756536921
NM_000548.5(TSC2):c.203C>G (p.Ala68Gly)
NM_000548.5(TSC2):c.2114T>C (p.Val705Ala) rs397515068
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met) rs778040604
NM_000548.5(TSC2):c.2123T>C (p.Leu708Pro) rs876659689
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2272T>C (p.Ser758Pro) rs2151327279
NM_000548.5(TSC2):c.2288A>C (p.His763Pro)
NM_000548.5(TSC2):c.2288A>T (p.His763Leu)
NM_000548.5(TSC2):c.2512A>G (p.Ser838Gly)
NM_000548.5(TSC2):c.2546-6C>G
NM_000548.5(TSC2):c.2552C>T (p.Ala851Val) rs1596364874
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser) rs1555508378
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu) rs750336814
NM_000548.5(TSC2):c.2608G>A (p.Ala870Thr) rs1060500975
NM_000548.5(TSC2):c.2638A>G (p.Lys880Glu) rs2151382293
NM_000548.5(TSC2):c.2656G>A (p.Val886Met) rs999523698
NM_000548.5(TSC2):c.2734A>C (p.Ile912Leu)
NM_000548.5(TSC2):c.2787G>T (p.Glu929Asp) rs968144525
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.2836A>G (p.Ser946Gly) rs2151396480
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.2896T>G (p.Phe966Val)
NM_000548.5(TSC2):c.2992G>C (p.Ala998Pro) rs1440361406
NM_000548.5(TSC2):c.2992G>T (p.Ala998Ser) rs1440361406
NM_000548.5(TSC2):c.3056A>C (p.His1019Pro) rs1555510317
NM_000548.5(TSC2):c.3167G>A (p.Arg1056Lys)
NM_000548.5(TSC2):c.3227G>C (p.Gly1076Ala)
NM_000548.5(TSC2):c.3236C>T (p.Ser1079Leu) rs397515087
NM_000548.5(TSC2):c.3259G>A (p.Glu1087Lys) rs1085307762
NM_000548.5(TSC2):c.3263T>C (p.Leu1088Pro)
NM_000548.5(TSC2):c.3284+1dup
NM_000548.5(TSC2):c.3304G>A (p.Val1102Met) rs775584262
NM_000548.5(TSC2):c.3393G>T (p.Met1131Ile) rs1297504532
NM_000548.5(TSC2):c.3502_3503delinsGC (p.Lys1168Ala)
NM_000548.5(TSC2):c.3557A>C (p.Tyr1186Ser) rs137854421
NM_000548.5(TSC2):c.3575A>G (p.Gln1192Arg) rs755559677
NM_000548.5(TSC2):c.3644C>T (p.Pro1215Leu) rs933257311
NM_000548.5(TSC2):c.3740C>G (p.Thr1247Arg) rs2151483328
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3824del (p.Phe1275fs) rs1185513978
NM_000548.5(TSC2):c.3867G>T (p.Arg1289Ser) rs1008733639
NM_000548.5(TSC2):c.391C>G (p.Pro131Ala) rs777398393
NM_000548.5(TSC2):c.3944C>T (p.Pro1315Leu) rs775990159
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_000548.5(TSC2):c.3995C>T (p.Ala1332Val)
NM_000548.5(TSC2):c.3998A>G (p.Tyr1333Cys) rs878854099
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4005G>C (p.Arg1335Ser) rs2090436302
NM_000548.5(TSC2):c.4007C>G (p.Ser1336Trp) rs148527903
NM_000548.5(TSC2):c.4070T>C (p.Ile1357Thr) rs878854103
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter) rs45517329
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4325A>T (p.Glu1442Val) rs1204349917
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4366C>G (p.Leu1456Val)
NM_000548.5(TSC2):c.4393G>A (p.Asp1465Asn) rs1425542648
NM_000548.5(TSC2):c.439A>G (p.Thr147Ala) rs1596265301
NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val) rs2090531407
NM_000548.5(TSC2):c.4421G>A (p.Arg1474Lys) rs2090535225
NM_000548.5(TSC2):c.4423G>A (p.Val1475Ile) rs1202676769
NM_000548.5(TSC2):c.4435G>C (p.Ala1479Pro)
NM_000548.5(TSC2):c.4450G>A (p.Ala1484Thr)
NM_000548.5(TSC2):c.4504C>A (p.Leu1502Met) rs928525608
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4520C>G (p.Ser1507Cys) rs746246149
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4633A>G (p.Ile1545Val) rs878854109
NM_000548.5(TSC2):c.4744A>G (p.Ile1582Val)
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.476A>T (p.Glu159Val) rs1555497716
NM_000548.5(TSC2):c.4772A>G (p.Lys1591Arg) rs1596439144
NM_000548.5(TSC2):c.4849G>A (p.Ala1617Thr) rs2090791005
NM_000548.5(TSC2):c.4850-5C>G
NM_000548.5(TSC2):c.4861A>G (p.Ile1621Val) rs1555516628
NM_000548.5(TSC2):c.4942A>C (p.Ile1648Leu) rs749554579
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.4989G>A (p.Lys1663=) rs1567124948
NM_000548.5(TSC2):c.4999A>G (p.Asn1667Asp) rs1182240785
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5090C>G (p.Thr1697Ser) rs777223264
NM_000548.5(TSC2):c.5093G>C (p.Ser1698Thr) rs1267700080
NM_000548.5(TSC2):c.5102_5104del (p.Lys1701del)
NM_000548.5(TSC2):c.5119A>C (p.Asn1707His) rs1300582033
NM_000548.5(TSC2):c.5174T>C (p.Val1725Ala)
NM_000548.5(TSC2):c.5195C>T (p.Pro1732Leu)
NM_000548.5(TSC2):c.5197A>C (p.Thr1733Pro) rs1596460327
NM_000548.5(TSC2):c.5197A>G (p.Thr1733Ala) rs1596460327
NM_000548.5(TSC2):c.5201A>T (p.Asp1734Val) rs878854117
NM_000548.5(TSC2):c.5260-18A>G
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5302G>C (p.Val1768Leu)
NM_000548.5(TSC2):c.5309C>G (p.Pro1770Arg) rs771357054
NM_000548.5(TSC2):c.5333C>T (p.Ala1778Val) rs755900742
NM_000548.5(TSC2):c.5391C>G (p.Ile1797Met)
NM_000548.5(TSC2):c.577G>C (p.Glu193Gln)
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.632C>T (p.Ser211Phe) rs878854120
NM_000548.5(TSC2):c.724A>G (p.Thr242Ala)
NM_000548.5(TSC2):c.746T>C (p.Val249Ala) rs1596278719
NM_000548.5(TSC2):c.748A>G (p.Lys250Glu) rs2085894886
NM_000548.5(TSC2):c.847A>G (p.Arg283Gly) rs1596280931
NM_000548.5(TSC2):c.916G>T (p.Ala306Ser)
NM_001029896.2(WDR45):c.131-11_145del rs1569523544
NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del) rs864309661
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr) rs372927331
NM_001128159.3(VPS53):c.2006A>G (p.Lys669Arg) rs1910135011
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.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
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.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.625-2A>G
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.882C>A (p.Tyr294Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001135146.2(SLC39A8):c.1020C>G (p.Ile340Met) rs1732174032
NM_001135146.2(SLC39A8):c.1026T>A (p.Cys342Ter) rs1732173818
NM_001135146.2(SLC39A8):c.316C>T (p.Gln106Ter) rs1734625225
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
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.170C>T (p.Ala57Val) rs1007913441
NM_001199198.3(TBC1D23):c.1883G>T (p.Gly628Val) rs777421069
NM_001199198.3(TBC1D23):c.538C>T (p.Pro180Ser) rs2067781962
NM_001366285.2(TBXT):c.466G>T (p.Gly156Cys) rs1779123176
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu) rs2072812741
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
NM_001367721.1(CASK):c.709-3C>T rs2067016459
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) rs794727270
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001519.4(BRF1):c.1592AGA[2] (p.Lys533del) rs868673013
NM_001519.4(BRF1):c.1714C>G (p.Arg572Gly) rs770411283
NM_001519.4(BRF1):c.779T>C (p.Leu260Pro) rs1595325674
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter) rs1569215382
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His) rs866834118
NM_002547.3(OPHN1):c.598-1G>C
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
NM_002768.5(CHMP1A):c.106-3C>T rs765715151
NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala) rs953400825
NM_002768.5(CHMP1A):c.28-2A>G
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
NM_004958.4(MTOR):c.1438G>T (p.Ala480Ser) rs201601333
NM_004958.4(MTOR):c.2579A>T (p.Lys860Met) rs1441440583
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr) rs1644090362
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile) rs1553171141
NM_004958.4(MTOR):c.7336_7341del (p.Thr2446_Asp2447del) rs1641966003
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005027.4(PIK3R2):c.29G>A (p.Arg10His) rs1371555508
NM_005559.4(LAMA1):c.1211C>A (p.Ser404Tyr)
NM_005559.4(LAMA1):c.3364-4G>T rs2057863581
NM_005559.4(LAMA1):c.5700dup (p.Ser1901fs)
NM_005559.4(LAMA1):c.5726T>C (p.Ile1909Thr) rs199766289
NM_005559.4(LAMA1):c.6029A>G (p.Lys2010Arg) rs2057692609
NM_005559.4(LAMA1):c.6557C>A (p.Ser2186Tyr) rs1261229691
NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006831.3(CLP1):c.159_161del (p.Lys54del) rs758902215
NM_006831.3(CLP1):c.422T>A (p.Leu141Ter) rs1945858355
NM_014008.5(CCDC22):c.110C>T (p.Ala37Val) rs782333361
NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu) rs782344227
NM_014008.5(CCDC22):c.190C>G (p.Arg64Gly)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) rs1815967070
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala) rs1389518788
NM_016111.4(TELO2):c.1382C>T (p.Thr461Met) rs199748546
NM_016111.4(TELO2):c.1476T>G (p.Asp492Glu) rs2039707751
NM_016111.4(TELO2):c.2002C>T (p.Arg668Trp)
NM_016111.4(TELO2):c.2449G>A (p.Ala817Thr) rs2040070431
NM_018082.6(POLR3B):c.1670A>G (p.Asn557Ser) rs2037539502
NM_018082.6(POLR3B):c.745C>G (p.Gln249Glu) rs2036932047
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018718.3(CEP41):c.34-2A>G rs1797714974
NM_020134.4(DPYSL5):c.-122G>T
NM_020134.4(DPYSL5):c.323C>T (p.Ser108Phe)
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.1035+2T>G
NM_020320.5(RARS2):c.1055dup (p.His353fs)
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_020320.5(RARS2):c.111-2A>G
NM_020320.5(RARS2):c.1113-2A>G
NM_020320.5(RARS2):c.1168G>A (p.Val390Ile) rs1773191232
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.1297ATT[1] (p.Ile434del) rs1772724414
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.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.1512-1G>A
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.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.214C>G (p.Leu72Val) rs1562212838
NM_020320.5(RARS2):c.233_234del (p.Val78fs) rs1582712331
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.333del (p.Lys111fs)
NM_020320.5(RARS2):c.340T>C (p.Leu114=) rs1785581058
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.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.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.488A>G (p.His163Arg) rs1260340118
NM_020320.5(RARS2):c.535+2T>G
NM_020320.5(RARS2):c.536-1G>A
NM_020320.5(RARS2):c.536-5G>A rs1781141008
NM_020320.5(RARS2):c.53_60del (p.Asn18fs)
NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)
NM_020320.5(RARS2):c.613-3927C>T rs1410239766
NM_020320.5(RARS2):c.617del (p.Tyr206fs)
NM_020320.5(RARS2):c.622C>T (p.Gln208Ter) rs1777321509
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.795del (p.Glu265fs)
NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)
NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)
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_025077.4(TOE1):c.1439G>A (p.Gly480Asp) rs1442140372
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025265.4(TSEN2):c.770_776delinsCA (p.Tyr257fs) rs2054534882
NM_033026.6(PCLO):c.10918T>C (p.Phe3640Leu) rs1795285617
NM_033026.6(PCLO):c.11578C>T (p.Pro3860Ser) rs1794464164
NM_033026.6(PCLO):c.2576A>G (p.Gln859Arg) rs1791681904
NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val) rs1795508585
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser) rs201432429
NM_033026.6(PCLO):c.6533C>A (p.Pro2178His) rs764859401
NM_033026.6(PCLO):c.7375G>T (p.Val2459Phe) rs1795419455
NM_033026.6(PCLO):c.863T>G (p.Ile288Arg) rs1237855795
NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter) rs1576660495
NM_153816.6(SNX14):c.119C>T (p.Ala40Val) rs1803676386
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) rs1582696313
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) rs773557814
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) rs765192341
NM_207346.3(TSEN54):c.1280T>C (p.Leu427Pro) rs2053450384
NM_207346.3(TSEN54):c.1381T>C (p.Phe461Leu) rs767683456
NM_207346.3(TSEN54):c.167G>A (p.Arg56His) rs1281448557
NM_207346.3(TSEN54):c.462G>C (p.Gln154His) rs2053387849
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384

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