ClinVar Miner

List of variants reported as likely benign for Intellectual disability, X-linked 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=) rs1315062158 0.05436
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368 0.00101
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286 0.00049
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933 0.00033
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) rs1057521625 0.00028
NM_001111125.3(IQSEC2):c.2890-6G>A rs184248834 0.00025
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001111125.3(IQSEC2):c.1648C>G (p.Pro550Ala) rs782469479 0.00010
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=) rs1216934275 0.00010
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001111125.3(IQSEC2):c.4311T>C (p.Tyr1437=) rs1556858993 0.00009
NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=) rs1354953265 0.00009
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.3116-4A>T rs371502883 0.00007
NM_001111125.3(IQSEC2):c.405G>A (p.Arg135=) rs782085578 0.00007
NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val) rs782715847 0.00006
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) rs1057522131 0.00005
NM_001111125.3(IQSEC2):c.1703G>A (p.Arg568His) rs1188327285 0.00005
NM_001111125.3(IQSEC2):c.2022T>A (p.Gly674=) rs1471608548 0.00004
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=) rs371815225 0.00004
NM_001111125.3(IQSEC2):c.2784C>G (p.Leu928=) rs781904549 0.00004
NM_001111125.3(IQSEC2):c.3318C>T (p.Ala1106=) rs781870523 0.00004
NM_001111125.3(IQSEC2):c.3837G>A (p.Pro1279=) rs1405620315 0.00004
NM_001111125.3(IQSEC2):c.3939C>T (p.Ala1313=) rs1473963072 0.00004
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=) rs1057521782 0.00004
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys) rs1556863213 0.00003
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn) rs782244422 0.00003
NM_001111125.3(IQSEC2):c.2297+13C>T rs782625023 0.00003
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=) rs1556880350 0.00003
NM_001111125.3(IQSEC2):c.2889+10T>C rs1057523665 0.00003
NM_001111125.3(IQSEC2):c.3501+7G>T rs1221336765 0.00003
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=) rs1057523277 0.00003
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr) rs1057521942 0.00003
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln) rs1449945045 0.00003
NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr) rs1085307636 0.00003
NM_001111125.3(IQSEC2):c.531G>C (p.Pro177=) rs1198105155 0.00003
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp) rs886044891 0.00003
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) rs1470379713 0.00003
NM_001111125.3(IQSEC2):c.957A>G (p.Leu319=) rs782803496 0.00003
NM_001111125.3(IQSEC2):c.1426G>A (p.Asp476Asn) rs200182557 0.00002
NM_001111125.3(IQSEC2):c.1657C>T (p.Pro553Ser) rs781876521 0.00002
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001111125.3(IQSEC2):c.2064C>T (p.Gly688=) rs782766118 0.00002
NM_001111125.3(IQSEC2):c.2139C>T (p.Ser713=) rs782507169 0.00002
NM_001111125.3(IQSEC2):c.2181C>T (p.Thr727=) rs782731808 0.00002
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=) rs1556880357 0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372 0.00002
NM_001111125.3(IQSEC2):c.2867G>A (p.Arg956His) rs1556861319 0.00002
NM_001111125.3(IQSEC2):c.294C>T (p.His98=) rs1556880235 0.00002
NM_001111125.3(IQSEC2):c.3278-14C>T rs782292524 0.00002
NM_001111125.3(IQSEC2):c.3326C>T (p.Pro1109Leu) rs1556859714 0.00002
NM_001111125.3(IQSEC2):c.3357G>A (p.Thr1119=) rs1041874158 0.00002
NM_001111125.3(IQSEC2):c.3451+18C>T rs782065826 0.00002
NM_001111125.3(IQSEC2):c.3486G>A (p.Leu1162=) rs1490274246 0.00002
NM_001111125.3(IQSEC2):c.3502-15C>T rs1299191132 0.00002
NM_001111125.3(IQSEC2):c.3696T>G (p.Ser1232=) rs1556859248 0.00002
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu) rs1414926823 0.00002
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635 0.00002
NM_001111125.3(IQSEC2):c.3930C>T (p.Pro1310=) rs913156254 0.00002
NM_001111125.3(IQSEC2):c.4197A>G (p.Ala1399=) rs1425766090 0.00002
NM_001111125.3(IQSEC2):c.446C>T (p.Ala149Val) rs1556880136 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=) rs1411580863 0.00002
NM_001111125.3(IQSEC2):c.909C>T (p.Val303=) rs781821475 0.00002
NM_001111125.3(IQSEC2):c.1009C>T (p.Leu337=) rs781797392 0.00001
NM_001111125.3(IQSEC2):c.1026G>A (p.Gly342=) rs782092090 0.00001
NM_001111125.3(IQSEC2):c.1036C>T (p.Leu346=) rs2074443904 0.00001
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=) rs782503727 0.00001
NM_001111125.3(IQSEC2):c.1236G>A (p.Ser412=) rs782420377 0.00001
NM_001111125.3(IQSEC2):c.1265G>A (p.Arg422Gln) rs782441771 0.00001
NM_001111125.3(IQSEC2):c.1275G>A (p.Arg425=) rs782511486 0.00001
NM_001111125.3(IQSEC2):c.1339G>A (p.Val447Ile) rs1556864546 0.00001
NM_001111125.3(IQSEC2):c.1341C>T (p.Val447=) rs1361283835 0.00001
NM_001111125.3(IQSEC2):c.1374A>G (p.Thr458=) rs781998777 0.00001
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=) rs781915467 0.00001
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His) rs370228504 0.00001
NM_001111125.3(IQSEC2):c.158A>G (p.Gln53Arg) rs1158391435 0.00001
NM_001111125.3(IQSEC2):c.1629C>T (p.Pro543=) rs2074379481 0.00001
NM_001111125.3(IQSEC2):c.1653C>T (p.Leu551=) rs782763345 0.00001
NM_001111125.3(IQSEC2):c.16G>C (p.Gly6Arg) rs1556880366 0.00001
NM_001111125.3(IQSEC2):c.1729G>A (p.Gly577Arg) rs782585718 0.00001
NM_001111125.3(IQSEC2):c.189G>A (p.Glu63=) rs1365066616 0.00001
NM_001111125.3(IQSEC2):c.2046G>A (p.Gly682=) rs782567023 0.00001
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu) rs781930433 0.00001
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=) rs2074366023 0.00001
NM_001111125.3(IQSEC2):c.2316C>T (p.Ile772=) rs1337229168 0.00001
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=) rs781978108 0.00001
NM_001111125.3(IQSEC2):c.234C>G (p.Gly78=) rs943476072 0.00001
NM_001111125.3(IQSEC2):c.2455T>C (p.Leu819=) rs1323515165 0.00001
NM_001111125.3(IQSEC2):c.2459+16T>C rs1204868242 0.00001
NM_001111125.3(IQSEC2):c.2459+19G>A rs1057522303 0.00001
NM_001111125.3(IQSEC2):c.2583-10T>C rs993459100 0.00001
NM_001111125.3(IQSEC2):c.2592C>T (p.Tyr864=) rs1556862204 0.00001
NM_001111125.3(IQSEC2):c.2694C>T (p.Pro898=) rs2074317558 0.00001
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=) rs371055459 0.00001
NM_001111125.3(IQSEC2):c.2940G>A (p.Glu980=) rs1052517256 0.00001
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=) rs781902812 0.00001
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys) rs782569979 0.00001
NM_001111125.3(IQSEC2):c.3231C>T (p.Arg1077=) rs781899074 0.00001
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=) rs782437696 0.00001
NM_001111125.3(IQSEC2):c.3249G>A (p.Val1083=) rs375024113 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001111125.3(IQSEC2):c.3390G>A (p.Gly1130=) rs781835382 0.00001
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn) rs1556859667 0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T rs1057522236 0.00001
NM_001111125.3(IQSEC2):c.345C>G (p.Gly115=) rs1438347773 0.00001
NM_001111125.3(IQSEC2):c.3501+9C>T rs1267607124 0.00001
NM_001111125.3(IQSEC2):c.3502-8G>A rs781808329 0.00001
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001111125.3(IQSEC2):c.3548C>T (p.Pro1183Leu) rs1302692296 0.00001
NM_001111125.3(IQSEC2):c.363C>T (p.Gly121=) rs1178634147 0.00001
NM_001111125.3(IQSEC2):c.3727C>T (p.His1243Tyr) rs1050525102 0.00001
NM_001111125.3(IQSEC2):c.380A>G (p.Glu127Gly) rs933120152 0.00001
NM_001111125.3(IQSEC2):c.381G>A (p.Glu127=) rs1556880187 0.00001
NM_001111125.3(IQSEC2):c.3843C>T (p.Pro1281=) rs1352308032 0.00001
NM_001111125.3(IQSEC2):c.3846C>T (p.Tyr1282=) rs1556859158 0.00001
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=) rs1556880172 0.00001
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=) rs1556859096 0.00001
NM_001111125.3(IQSEC2):c.463G>T (p.Ala155Ser) rs1556880128 0.00001
NM_001111125.3(IQSEC2):c.597G>A (p.Pro199=) rs1282192716 0.00001
NM_001111125.3(IQSEC2):c.639C>T (p.Ser213=) rs2075418300 0.00001
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=) rs782524925 0.00001
NM_001111125.3(IQSEC2):c.708-6T>C rs782195025 0.00001
NM_001111125.3(IQSEC2):c.730A>G (p.Thr244Ala) rs1556873118 0.00001
NM_001111125.3(IQSEC2):c.738-7C>T rs1556865215 0.00001
NM_001111125.3(IQSEC2):c.766C>T (p.Leu256=) rs781919609 0.00001
NM_001111125.3(IQSEC2):c.777G>A (p.Ala259=) rs923484172 0.00001
NM_001111125.3(IQSEC2):c.809G>A (p.Arg270Gln) rs782463684 0.00001
NM_001111125.3(IQSEC2):c.885G>C (p.Arg295=) rs782699475 0.00001
NM_001111125.3(IQSEC2):c.903C>G (p.Ala301=) rs782488348 0.00001
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759 0.00001
NC_000023.10:g.(?_53349595)_(53410194_?)dup
NC_000023.10:g.(?_53349595)_(53571743_?)dup
NC_000023.10:g.(?_53349605)_(53350321_?)dup
NM_001111125.3(IQSEC2):c.1000-10T>C rs2147123327
NM_001111125.3(IQSEC2):c.1000-12del
NM_001111125.3(IQSEC2):c.1000-17C>G
NM_001111125.3(IQSEC2):c.1000-9C>T rs1556864744
NM_001111125.3(IQSEC2):c.1008G>C (p.Met336Ile) rs2074444300
NM_001111125.3(IQSEC2):c.1059C>G (p.Thr353=) rs2147123040
NM_001111125.3(IQSEC2):c.106C>T (p.Leu36=) rs2146552909
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=) rs1602383725
NM_001111125.3(IQSEC2):c.1105C>A (p.Arg369=)
NM_001111125.3(IQSEC2):c.1110A>C (p.Leu370=)
NM_001111125.3(IQSEC2):c.1128G>A (p.Glu376=) rs2147122484
NM_001111125.3(IQSEC2):c.1158C>T (p.Ser386=)
NM_001111125.3(IQSEC2):c.1194G>A (p.Glu398=)
NM_001111125.3(IQSEC2):c.1218C>T (p.Phe406=)
NM_001111125.3(IQSEC2):c.1230T>C (p.Pro410=) rs2147121849
NM_001111125.3(IQSEC2):c.1251C>T (p.Ala417=)
NM_001111125.3(IQSEC2):c.12G>T (p.Gly4=)
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=) rs1556880287
NM_001111125.3(IQSEC2):c.1338C>T (p.Ser446=)
NM_001111125.3(IQSEC2):c.1347A>G (p.Thr449=)
NM_001111125.3(IQSEC2):c.1401+8T>C
NM_001111125.3(IQSEC2):c.1402-11C>T
NM_001111125.3(IQSEC2):c.1402-12C>G
NM_001111125.3(IQSEC2):c.1402-13C>G
NM_001111125.3(IQSEC2):c.1402-14C>T rs2147105052
NM_001111125.3(IQSEC2):c.1402-18C>T
NM_001111125.3(IQSEC2):c.1422C>T (p.Ser474=) rs2147104494
NM_001111125.3(IQSEC2):c.1469A>G (p.Glu490Gly) rs782279475
NM_001111125.3(IQSEC2):c.1485G>A (p.Gln495=)
NM_001111125.3(IQSEC2):c.1494G>A (p.Lys498=) rs2147103672
NM_001111125.3(IQSEC2):c.1496G>A (p.Arg499Gln) rs782243346
NM_001111125.3(IQSEC2):c.1512G>A (p.Gln504=)
NM_001111125.3(IQSEC2):c.1518G>A (p.Glu506=) rs2147103383
NM_001111125.3(IQSEC2):c.151C>G (p.Leu51Val)
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=) rs782768601
NM_001111125.3(IQSEC2):c.1557C>T (p.Tyr519=)
NM_001111125.3(IQSEC2):c.1608A>G (p.Glu536=)
NM_001111125.3(IQSEC2):c.1624C>T (p.Arg542Trp)
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu) rs782420335
NM_001111125.3(IQSEC2):c.1668A>G (p.Pro556=)
NM_001111125.3(IQSEC2):c.1701C>T (p.Ser567=)
NM_001111125.3(IQSEC2):c.1702C>T (p.Arg568Cys)
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp) rs1569302404
NM_001111125.3(IQSEC2):c.1731G>A (p.Gly577=)
NM_001111125.3(IQSEC2):c.1756C>T (p.Leu586=)
NM_001111125.3(IQSEC2):c.1760G>A (p.Arg587Gln)
NM_001111125.3(IQSEC2):c.1788T>C (p.Ile596=) rs2147100123
NM_001111125.3(IQSEC2):c.1791G>A (p.Glu597=) rs1319710513
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=) rs1602283885
NM_001111125.3(IQSEC2):c.1812G>C (p.Val604=) rs2147099994
NM_001111125.3(IQSEC2):c.1816C>T (p.Leu606=) rs2147099953
NM_001111125.3(IQSEC2):c.1835G>A (p.Arg612His)
NM_001111125.3(IQSEC2):c.1836C>T (p.Arg612=)
NM_001111125.3(IQSEC2):c.1872T>C (p.Asp624=)
NM_001111125.3(IQSEC2):c.1878C>T (p.Cys626=)
NM_001111125.3(IQSEC2):c.1884C>T (p.Pro628=)
NM_001111125.3(IQSEC2):c.1893C>A (p.Thr631=)
NM_001111125.3(IQSEC2):c.1911A>C (p.Pro637=)
NM_001111125.3(IQSEC2):c.1936C>T (p.Arg646Cys)
NM_001111125.3(IQSEC2):c.1981C>T (p.Pro661Ser)
NM_001111125.3(IQSEC2):c.1983C>G (p.Pro661=)
NM_001111125.3(IQSEC2):c.1984C>T (p.Leu662=)
NM_001111125.3(IQSEC2):c.2041T>C (p.Leu681=) rs1556863072
NM_001111125.3(IQSEC2):c.2049G>A (p.Lys683=)
NM_001111125.3(IQSEC2):c.2064C>A (p.Gly688=) rs782766118
NM_001111125.3(IQSEC2):c.2103C>T (p.Ser701=) rs2147097639
NM_001111125.3(IQSEC2):c.2106C>T (p.Ser702=)
NM_001111125.3(IQSEC2):c.2124C>T (p.Thr708=)
NM_001111125.3(IQSEC2):c.2127C>T (p.Ile709=) rs1556863038
NM_001111125.3(IQSEC2):c.213G>A (p.Glu71=) rs2146552192
NM_001111125.3(IQSEC2):c.2220T>C (p.His740=)
NM_001111125.3(IQSEC2):c.2241C>T (p.Phe747=)
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=) rs1556862965
NM_001111125.3(IQSEC2):c.2297+11C>G
NM_001111125.3(IQSEC2):c.2297+7G>A rs1556862951
NM_001111125.3(IQSEC2):c.2304A>G (p.Pro768=)
NM_001111125.3(IQSEC2):c.2319G>A (p.Gln773=)
NM_001111125.3(IQSEC2):c.2323C>T (p.Leu775=) rs1569300762
NM_001111125.3(IQSEC2):c.2346A>G (p.Ser782=)
NM_001111125.3(IQSEC2):c.2459+8C>A rs1485084441
NM_001111125.3(IQSEC2):c.2460-15T>C
NM_001111125.3(IQSEC2):c.2469G>A (p.Val823=)
NM_001111125.3(IQSEC2):c.2508G>T (p.Ala836=) rs2274308
NM_001111125.3(IQSEC2):c.2529T>C (p.His843=) rs2147086012
NM_001111125.3(IQSEC2):c.2582+19C>T
NM_001111125.3(IQSEC2):c.2582+20G>A
NM_001111125.3(IQSEC2):c.2583-6C>T
NM_001111125.3(IQSEC2):c.258G>A (p.Glu86=)
NM_001111125.3(IQSEC2):c.2631C>T (p.Asn877=)
NM_001111125.3(IQSEC2):c.2649C>A (p.Ile883=)
NM_001111125.3(IQSEC2):c.2652T>C (p.Leu884=)
NM_001111125.3(IQSEC2):c.2667C>T (p.Ile889=) rs2147080648
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) rs2074317922
NM_001111125.3(IQSEC2):c.2679C>G (p.Thr893=) rs782193796
NM_001111125.3(IQSEC2):c.2697C>T (p.Ser899=) rs1602277510
NM_001111125.3(IQSEC2):c.2727T>C (p.Asp909=) rs2147080245
NM_001111125.3(IQSEC2):c.274C>T (p.Leu92=)
NM_001111125.3(IQSEC2):c.2750-7C>T rs1602271589
NM_001111125.3(IQSEC2):c.2750-9C>T rs1556861395
NM_001111125.3(IQSEC2):c.2760T>C (p.Asn920=)
NM_001111125.3(IQSEC2):c.2784C>T (p.Leu928=)
NM_001111125.3(IQSEC2):c.279C>T (p.Arg93=)
NM_001111125.3(IQSEC2):c.27C>T (p.Gly9=)
NM_001111125.3(IQSEC2):c.2821C>T (p.Leu941=) rs2147060225
NM_001111125.3(IQSEC2):c.2853G>A (p.Val951=) rs1602271333
NM_001111125.3(IQSEC2):c.2874T>C (p.Ile958=)
NM_001111125.3(IQSEC2):c.2889+20G>T
NM_001111125.3(IQSEC2):c.288G>A (p.Gln96=) rs2146551593
NM_001111125.3(IQSEC2):c.2890-13C>T
NM_001111125.3(IQSEC2):c.2890-8C>T
NM_001111125.3(IQSEC2):c.2890-9C>T
NM_001111125.3(IQSEC2):c.2961C>T (p.Pro987=)
NM_001111125.3(IQSEC2):c.2991C>T (p.Val997=) rs2147049319
NM_001111125.3(IQSEC2):c.3003T>C (p.Asn1001=) rs2147049244
NM_001111125.3(IQSEC2):c.3012T>C (p.Leu1004=)
NM_001111125.3(IQSEC2):c.3015+10_3015+16del
NM_001111125.3(IQSEC2):c.3015+12G>T
NM_001111125.3(IQSEC2):c.3015+14G>A
NM_001111125.3(IQSEC2):c.3015+15G>A
NM_001111125.3(IQSEC2):c.3015+7G>A
NM_001111125.3(IQSEC2):c.3015+7_3015+8insATC
NM_001111125.3(IQSEC2):c.3016-9C>G rs1325334521
NM_001111125.3(IQSEC2):c.3054G>C (p.Thr1018=) rs782748833
NM_001111125.3(IQSEC2):c.306G>A (p.Leu102=)
NM_001111125.3(IQSEC2):c.3072T>C (p.Ser1024=) rs1602264305
NM_001111125.3(IQSEC2):c.3075C>T (p.Phe1025=) rs1602264279
NM_001111125.3(IQSEC2):c.3093C>T (p.His1031=)
NM_001111125.3(IQSEC2):c.3099G>A (p.Gln1033=)
NM_001111125.3(IQSEC2):c.309G>A (p.Arg103=)
NM_001111125.3(IQSEC2):c.3115+13T>C
NM_001111125.3(IQSEC2):c.3115+20C>T
NM_001111125.3(IQSEC2):c.3139C>T (p.Leu1047=)
NM_001111125.3(IQSEC2):c.318G>A (p.Gln106=) rs2146551348
NM_001111125.3(IQSEC2):c.3201G>A (p.Gln1067=)
NM_001111125.3(IQSEC2):c.3207G>C (p.Arg1069=)
NM_001111125.3(IQSEC2):c.3210G>A (p.Leu1070=)
NM_001111125.3(IQSEC2):c.3228G>A (p.Leu1076=) rs1284351565
NM_001111125.3(IQSEC2):c.3252G>A (p.Gln1084=)
NM_001111125.3(IQSEC2):c.3273G>A (p.Val1091=)
NM_001111125.3(IQSEC2):c.3278-10T>C rs2147015945
NM_001111125.3(IQSEC2):c.3278-13G>A
NM_001111125.3(IQSEC2):c.3282G>A (p.Glu1094=) rs2147015788
NM_001111125.3(IQSEC2):c.3381C>T (p.Asp1127=)
NM_001111125.3(IQSEC2):c.3414C>A (p.Gly1138=)
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=) rs1602259971
NM_001111125.3(IQSEC2):c.3429C>T (p.Ser1143=) rs2147014056
NM_001111125.3(IQSEC2):c.3452-17C>T
NM_001111125.3(IQSEC2):c.3452-4G>A
NM_001111125.3(IQSEC2):c.3452-9T>C
NM_001111125.3(IQSEC2):c.3483G>A (p.Ser1161=) rs781859452
NM_001111125.3(IQSEC2):c.3501+14C>G
NM_001111125.3(IQSEC2):c.3501+20C>T
NM_001111125.3(IQSEC2):c.3502-12C>T
NM_001111125.3(IQSEC2):c.3502-14C>A
NM_001111125.3(IQSEC2):c.3502-15C>G
NM_001111125.3(IQSEC2):c.3502-19C>A rs782166410
NM_001111125.3(IQSEC2):c.3502-9C>T rs2074108627
NM_001111125.3(IQSEC2):c.3504G>T (p.Gly1168=)
NM_001111125.3(IQSEC2):c.3546T>G (p.Pro1182=) rs1602258133
NM_001111125.3(IQSEC2):c.3561G>A (p.Pro1187=)
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=) rs1286507586
NM_001111125.3(IQSEC2):c.3570G>A (p.Glu1190=)
NM_001111125.3(IQSEC2):c.3573G>A (p.Glu1191=) rs1556859307
NM_001111125.3(IQSEC2):c.3591C>T (p.Pro1197=) rs909191485
NM_001111125.3(IQSEC2):c.360A>G (p.Glu120=)
NM_001111125.3(IQSEC2):c.3635A>G (p.Lys1212Arg)
NM_001111125.3(IQSEC2):c.3666A>G (p.Pro1222=) rs1602257857
NM_001111125.3(IQSEC2):c.3687T>A (p.Ser1229=) rs1370477854
NM_001111125.3(IQSEC2):c.3693C>T (p.Ser1231=) rs782095203
NM_001111125.3(IQSEC2):c.3708T>C (p.Ser1236=)
NM_001111125.3(IQSEC2):c.3714G>A (p.Thr1238=) rs1355674546
NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3717CCA[5] (p.His1246_His1247del)
NM_001111125.3(IQSEC2):c.3723C>T (p.His1241=)
NM_001111125.3(IQSEC2):c.3732C>T (p.His1244=) rs932042983
NM_001111125.3(IQSEC2):c.3769C>T (p.Leu1257=) rs2074102874
NM_001111125.3(IQSEC2):c.376C>A (p.Arg126=)
NM_001111125.3(IQSEC2):c.3792C>T (p.Leu1264=)
NM_001111125.3(IQSEC2):c.3798C>A (p.Ala1266=) rs2147003811
NM_001111125.3(IQSEC2):c.3825G>C (p.Pro1275=) rs1057523277
NM_001111125.3(IQSEC2):c.3840A>T (p.Pro1280=)
NM_001111125.3(IQSEC2):c.384T>C (p.Ala128=)
NM_001111125.3(IQSEC2):c.3864C>T (p.Pro1288=)
NM_001111125.3(IQSEC2):c.3907C>T (p.Leu1303=)
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=) rs1460397663
NM_001111125.3(IQSEC2):c.3938C>T (p.Ala1313Val)
NM_001111125.3(IQSEC2):c.3969C>T (p.His1323=)
NM_001111125.3(IQSEC2):c.4014G>T (p.Arg1338=)
NM_001111125.3(IQSEC2):c.4034G>A (p.Arg1345Gln) rs1359566569
NM_001111125.3(IQSEC2):c.4038G>A (p.Gly1346=) rs2074097744
NM_001111125.3(IQSEC2):c.4041T>C (p.Ala1347=) rs2147002214
NM_001111125.3(IQSEC2):c.4044A>C (p.Gly1348=)
NM_001111125.3(IQSEC2):c.4098C>G (p.Ser1366=) rs1200431219
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=) rs1214109386
NM_001111125.3(IQSEC2):c.4113C>T (p.Tyr1371=)
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=) rs1602256870
NM_001111125.3(IQSEC2):c.4122C>A (p.Ala1374=) rs2147001768
NM_001111125.3(IQSEC2):c.4155T>C (p.Pro1385=) rs1602256804
NM_001111125.3(IQSEC2):c.4185G>A (p.Gln1395=)
NM_001111125.3(IQSEC2):c.4200A>G (p.Ala1400=) rs1602256754
NM_001111125.3(IQSEC2):c.4203C>G (p.Gly1401=) rs1556859024
NM_001111125.3(IQSEC2):c.4203C>T (p.Gly1401=)
NM_001111125.3(IQSEC2):c.4206G>C (p.Ala1402=) rs1057521782
NM_001111125.3(IQSEC2):c.4224C>T (p.Ser1408=) rs1602256714
NM_001111125.3(IQSEC2):c.4233A>G (p.Pro1411=) rs1602256699
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=) rs1556859017
NM_001111125.3(IQSEC2):c.4281A>G (p.Pro1427=)
NM_001111125.3(IQSEC2):c.4284C>T (p.His1428=) rs2074093429
NM_001111125.3(IQSEC2):c.4296A>C (p.Pro1432=) rs868908850
NM_001111125.3(IQSEC2):c.4323C>T (p.Pro1441=)
NM_001111125.3(IQSEC2):c.4332C>A (p.Ser1444=) rs1556858979
NM_001111125.3(IQSEC2):c.4332C>T (p.Ser1444=)
NM_001111125.3(IQSEC2):c.4335T>C (p.Pro1445=) rs1602256403
NM_001111125.3(IQSEC2):c.4344G>A (p.Pro1448=) rs868922938
NM_001111125.3(IQSEC2):c.4344G>T (p.Pro1448=)
NM_001111125.3(IQSEC2):c.434C>G (p.Thr145Ser) rs1308523144
NM_001111125.3(IQSEC2):c.4350A>G (p.Ser1450=)
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=) rs1556858970
NM_001111125.3(IQSEC2):c.4356T>G (p.Leu1452=)
NM_001111125.3(IQSEC2):c.4362C>T (p.Pro1454=) rs1556858960
NM_001111125.3(IQSEC2):c.4380G>A (p.Pro1460=) rs1332852634
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=) rs1556880144
NM_001111125.3(IQSEC2):c.4407A>G (p.Thr1469=) rs1556858934
NM_001111125.3(IQSEC2):c.4446C>T (p.Ser1482=)
NM_001111125.3(IQSEC2):c.4455C>T (p.Ser1485=)
NM_001111125.3(IQSEC2):c.447C>T (p.Ala149=)
NM_001111125.3(IQSEC2):c.489C>T (p.Asn163=)
NM_001111125.3(IQSEC2):c.505G>C (p.Glu169Gln)
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=) rs1556880086
NM_001111125.3(IQSEC2):c.525C>T (p.Ala175=) rs2146549736
NM_001111125.3(IQSEC2):c.529C>A (p.Pro177Thr)
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=) rs2146549172
NM_001111125.3(IQSEC2):c.573G>C (p.Ala191=) rs2146549172
NM_001111125.3(IQSEC2):c.57C>G (p.Ala19=) rs1432737111
NM_001111125.3(IQSEC2):c.581T>C (p.Val194Ala)
NM_001111125.3(IQSEC2):c.624C>A (p.Gly208=)
NM_001111125.3(IQSEC2):c.625G>T (p.Ala209Ser)
NM_001111125.3(IQSEC2):c.645C>T (p.Pro215=)
NM_001111125.3(IQSEC2):c.681C>T (p.Thr227=) rs2146548006
NM_001111125.3(IQSEC2):c.687G>C (p.Pro229=) rs2146547926
NM_001111125.3(IQSEC2):c.702G>A (p.Gln234=) rs2146547865
NM_001111125.3(IQSEC2):c.707+12G>T
NM_001111125.3(IQSEC2):c.708-13G>A
NM_001111125.3(IQSEC2):c.708-16T>C
NM_001111125.3(IQSEC2):c.727A>G (p.Arg243Gly)
NM_001111125.3(IQSEC2):c.737+16C>G
NM_001111125.3(IQSEC2):c.738-5C>T rs2147129385
NM_001111125.3(IQSEC2):c.738-9T>A
NM_001111125.3(IQSEC2):c.750T>C (p.Asp250=)
NM_001111125.3(IQSEC2):c.765C>T (p.Asp255=)
NM_001111125.3(IQSEC2):c.776C>T (p.Ala259Val)
NM_001111125.3(IQSEC2):c.801C>G (p.Pro267=) rs2074461496
NM_001111125.3(IQSEC2):c.801C>T (p.Pro267=)
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His) rs368559547
NM_001111125.3(IQSEC2):c.822G>A (p.Leu274=)
NM_001111125.3(IQSEC2):c.823C>A (p.Pro275Thr)
NM_001111125.3(IQSEC2):c.852C>T (p.Pro284=) rs1280970744
NM_001111125.3(IQSEC2):c.912C>T (p.Ala304=) rs2147127620
NM_001111125.3(IQSEC2):c.936G>A (p.Glu312=) rs2074458569
NM_001111125.3(IQSEC2):c.937A>C (p.Ile313Leu)
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=) rs782062867
NM_001111125.3(IQSEC2):c.96C>T (p.Ser32=)
NM_001111125.3(IQSEC2):c.999+7C>T

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