ClinVar Miner

List of variants studied for Irido-corneo-trabecular dysgenesis by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 196
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HGVS dbSNP gnomAD frequency
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_000104.4(CYP1B1):c.-1-14C>T rs4987134 0.02460
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_000104.4(CYP1B1):c.*2371T>C rs9309020 0.02296
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_000104.4(CYP1B1):c.*926A>C rs9341261 0.01416
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_000104.4(CYP1B1):c.*2158T>C rs112948057 0.01121
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_000104.4(CYP1B1):c.*2261A>C rs77534033 0.00985
NM_000104.4(CYP1B1):c.*1027del rs144188082 0.00927
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000104.4(CYP1B1):c.*981T>C rs9341262 0.00358
NM_000104.4(CYP1B1):c.*1853G>T rs9341265 0.00338
NM_000104.4(CYP1B1):c.-2G>A rs9341245 0.00309
NM_000104.4(CYP1B1):c.*1062G>T rs185371002 0.00297
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_000104.4(CYP1B1):c.*2333G>A rs35320531 0.00263
NM_000104.4(CYP1B1):c.*2349G>A rs9341268 0.00257
NM_000104.4(CYP1B1):c.*3024T>C rs532039339 0.00257
NM_153427.2(PITX2):c.-362C>G rs181197472 0.00251
NM_000104.4(CYP1B1):c.*2207G>A rs9341267 0.00244
NM_153427.2(PITX2):c.-1024G>A rs181439547 0.00231
NM_153427.2(PITX2):c.-1111C>G rs187210297 0.00231
NM_000104.4(CYP1B1):c.*118C>G rs1799885 0.00226
NM_000104.4(CYP1B1):c.*1460A>G rs137915099 0.00198
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) rs4987137 0.00191
NM_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00165
NM_000104.4(CYP1B1):c.*1056G>C rs187540802 0.00137
NM_000104.4(CYP1B1):c.*380G>A rs35007750 0.00137
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=) rs141245683 0.00121
NM_000104.4(CYP1B1):c.*466G>A rs9341260 0.00116
NM_153427.2(PITX2):c.-1137G>A rs141922822 0.00086
NM_000104.4(CYP1B1):c.*1938G>A rs570132783 0.00085
NM_000104.4(CYP1B1):c.*1075G>C rs77105857 0.00054
NM_000104.4(CYP1B1):c.*1746T>C rs34169771 0.00053
NM_000280.4(PAX6):c.*2887delG rs886048188 0.00050
NM_000104.4(CYP1B1):c.*115G>A rs555706078 0.00046
NM_153427.2(PITX2):c.-436G>C rs1026660025 0.00045
NM_000325.6(PITX2):c.*687A>G rs185925533 0.00043
NM_000104.4(CYP1B1):c.-84T>C rs886055999 0.00040
NM_000104.4(CYP1B1):c.*1781T>C rs750990195 0.00035
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000104.4(CYP1B1):c.*1005C>T rs35978993 0.00033
NM_000325.6(PITX2):c.*522T>C rs188349821 0.00032
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00030
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_000104.4(CYP1B1):c.*1683A>G rs189809220 0.00029
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_000104.4(CYP1B1):c.*2760C>A rs375588205 0.00021
NM_000104.4(CYP1B1):c.*1798T>G rs900163227 0.00019
NM_153427.3(PITX2):c.-40G>A rs942688607 0.00016
NM_000104.4(CYP1B1):c.850C>T (p.Arg284Trp) rs368249322 0.00015
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=) rs148461905 0.00014
NM_000104.4(CYP1B1):c.*1269T>A rs570388762 0.00013
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_000104.4(CYP1B1):c.*1141A>G rs759611970 0.00011
NM_000104.4(CYP1B1):c.*917G>A rs3755026 0.00011
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) rs56339482 0.00011
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) rs59472972 0.00009
NM_000325.6(PITX2):c.*176A>T rs567517676 0.00009
NM_153427.2(PITX2):c.-1385+12T>C rs140614517 0.00009
NM_000104.4(CYP1B1):c.*233A>G rs9341259 0.00008
NM_000104.4(CYP1B1):c.-80C>G rs894434388 0.00008
NM_000104.4(CYP1B1):c.1319T>G (p.Phe440Cys) rs771737035 0.00007
NM_000104.4(CYP1B1):c.226C>A (p.Arg76Ser) rs377210850 0.00007
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00007
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=) rs780375338 0.00007
NM_000104.4(CYP1B1):c.*1491G>T rs562799717 0.00006
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val) rs72549383 0.00006
NM_000325.6(PITX2):c.*440C>T rs1301785358 0.00006
NM_153427.2(PITX2):c.-1421G>C rs758425186 0.00006
NM_153427.2(PITX2):c.-501T>G rs915152120 0.00006
NM_000104.4(CYP1B1):c.*2597A>G rs746236755 0.00005
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=) rs775908245 0.00005
NM_153427.2(PITX2):c.-270A>G rs1163979542 0.00005
NM_000104.4(CYP1B1):c.*1346A>G rs960122791 0.00004
NM_000104.4(CYP1B1):c.*2209A>G rs949462503 0.00004
NM_000104.4(CYP1B1):c.*2499T>C rs886055988 0.00004
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu) rs769402060 0.00004
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=) rs748708268 0.00004
NM_153427.2(PITX2):c.-1092G>A rs754809224 0.00004
NM_153427.2(PITX2):c.-920C>T rs779178803 0.00004
NM_000104.4(CYP1B1):c.*105C>T rs756083290 0.00003
NM_000104.4(CYP1B1):c.*1561A>C rs34474461 0.00003
NM_000325.6(PITX2):c.*107A>C rs752553102 0.00003
NM_000325.6(PITX2):c.*264A>C rs886059006 0.00003
NM_000104.4(CYP1B1):c.*1173del rs3834137 0.00002
NM_000104.4(CYP1B1):c.*1611G>A rs572531079 0.00002
NM_000104.4(CYP1B1):c.-1-10C>T rs780269033 0.00002
NM_000104.4(CYP1B1):c.8C>A (p.Thr3Asn) rs372685881 0.00002
NM_000325.6(PITX2):c.*572T>C rs886059003 0.00002
NM_153427.2(PITX2):c.-1422C>A rs1423855887 0.00002
NM_153427.3(PITX2):c.-53G>A rs1388707841 0.00002
NM_000104.4(CYP1B1):c.*1079C>G rs886055994 0.00001
NM_000104.4(CYP1B1):c.*1601C>T rs886055992 0.00001
NM_000104.4(CYP1B1):c.*1730A>G rs886055991 0.00001
NM_000104.4(CYP1B1):c.*1895C>T rs886055990 0.00001
NM_000104.4(CYP1B1):c.*1910A>G rs1405956907 0.00001
NM_000104.4(CYP1B1):c.*1956A>G rs1235898139 0.00001
NM_000104.4(CYP1B1):c.*2151T>C rs886055989 0.00001
NM_000104.4(CYP1B1):c.*2498T>C rs572548236 0.00001
NM_000104.4(CYP1B1):c.*3086T>A rs969140341 0.00001
NM_000104.4(CYP1B1):c.*43C>T rs371252753 0.00001
NM_000104.4(CYP1B1):c.*661T>A rs886055995 0.00001
NM_000104.4(CYP1B1):c.1202A>G (p.His401Arg) rs886055997 0.00001
NM_000104.4(CYP1B1):c.1406G>A (p.Arg469Gln) rs747324108 0.00001
NM_000104.4(CYP1B1):c.1474G>A (p.Asp492Asn) rs776848093 0.00001
NM_000104.4(CYP1B1):c.24C>T (p.Asn8=) rs142995558 0.00001
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser) rs1156997078 0.00001
NM_000104.4(CYP1B1):c.381C>T (p.Ser127=) rs780857657 0.00001
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=) rs775055418 0.00001
NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys) rs886055998 0.00001
NM_000280.4(PAX6):c.*2387G>T rs886048194 0.00001
NM_000280.4(PAX6):c.*2551C>T rs886048190 0.00001
NM_000325.6(PITX2):c.*611A>G rs886059002 0.00001
NM_000325.6(PITX2):c.282G>T (p.Arg94=) rs768386257 0.00001
NM_000325.6(PITX2):c.412-7C>T rs762349019 0.00001
NM_153427.2(PITX2):c.-1411C>T rs1256005721 0.00001
NM_153427.2(PITX2):c.-1491G>A rs888167422 0.00001
NM_153427.2(PITX2):c.-483C>T rs1729689311 0.00001
NM_153427.2(PITX2):c.-966A>G rs1049702206 0.00001
NM_000104.4(CYP1B1):c.*1450T>C rs886055993
NM_000104.4(CYP1B1):c.*1544G>A rs1682376790
NM_000104.4(CYP1B1):c.*1766G>A rs1682371906
NM_000104.4(CYP1B1):c.*1908G>A rs34544682
NM_000104.4(CYP1B1):c.*1961G>C rs767403314
NM_000104.4(CYP1B1):c.*210dup rs4646431
NM_000104.4(CYP1B1):c.*2289G>T rs1682355981
NM_000104.4(CYP1B1):c.*2304A>C rs909259463
NM_000104.4(CYP1B1):c.*2314dup rs561615550
NM_000104.4(CYP1B1):c.*2660T>A rs886055987
NM_000104.4(CYP1B1):c.*3064A>T rs1682335231
NM_000104.4(CYP1B1):c.*3078G>A rs886055986
NM_000104.4(CYP1B1):c.*493G>A rs886055996
NM_000104.4(CYP1B1):c.*688T>C rs1682396717
NM_000104.4(CYP1B1):c.*864T>C rs987237179
NM_000104.4(CYP1B1):c.*867dup rs200949126
NM_000104.4(CYP1B1):c.*879del rs4646433
NM_000104.4(CYP1B1):c.*945C>T rs1327335898
NM_000104.4(CYP1B1):c.*972T>C rs1682390062
NM_000104.4(CYP1B1):c.*980A>C rs34521017
NM_000104.4(CYP1B1):c.-197C>G rs886056001
NM_000104.4(CYP1B1):c.-360G>C rs886056002
NM_000104.4(CYP1B1):c.-97dup rs11379588
NM_000104.4(CYP1B1):c.1345G>T (p.Asp449Tyr) rs149049138
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000104.4(CYP1B1):c.1593T>G (p.Ser531Arg) rs901961745
NM_000104.4(CYP1B1):c.371G>A (p.Arg124His) rs1177366364
NM_000104.4(CYP1B1):c.644G>C (p.Ser215Thr) rs72549384
NM_000104.4(CYP1B1):c.712G>T (p.Gly238Cys) rs1682493984
NM_000104.4(CYP1B1):c.809A>G (p.Asn270Ser) rs1381317977
NM_000280.4(PAX6):c.*2705_*2707delAGC rs886048189
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*3700_*3701delGT rs886048186
NM_000280.4(PAX6):c.*4919_*4921delATTinsCACAGATTAAAAGAAATG rs886048180
NM_000325.6(PITX2):c.*119T>A rs765040142
NM_000325.6(PITX2):c.*173G>A rs1728830475
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.*370G>C rs886059005
NM_000325.6(PITX2):c.*373GTT[1] rs886059004
NM_000325.6(PITX2):c.*696A>C rs1728803615
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000325.6(PITX2):c.412-11del rs886059007
NM_000325.6(PITX2):c.695G>A (p.Ser232Asn) rs746908680
NM_001368894.2(PAX6):c.*183dup rs886048200
NM_001368894.2(PAX6):c.*356del rs200391530
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-501del rs886048208
NM_153427.2(PITX2):c.-1078C>A rs1309981396
NM_153427.2(PITX2):c.-1209C>T rs563409386
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_153427.2(PITX2):c.-245G>A rs1729676876
NM_153427.2(PITX2):c.-300A>T rs1188264847
NM_153427.2(PITX2):c.-429C>G rs985015612
NM_153427.2(PITX2):c.-485C>G rs2739200
NM_153427.2(PITX2):c.-515C>T rs904945318
NM_153427.2(PITX2):c.-670C>T rs1017565030

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