ClinVar Miner

List of variants in gene IQSEC2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.2298-258A>G rs4830361 0.96679
NM_001111125.3(IQSEC2):c.737+12499A>G rs6529669 0.23864
NM_001111125.3(IQSEC2):c.3115+218T>G rs111902282 0.11266
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=) rs1315062158 0.05436
NM_001111125.3(IQSEC2):c.999+51C>T rs75167079 0.03998
NM_001111125.3(IQSEC2):c.737+170G>A rs143266331 0.03205
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_001111125.3(IQSEC2):c.708-258A>T rs138126527 0.01241
NM_001111125.3(IQSEC2):c.1401+36C>T rs150178370 0.00972
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001111125.3(IQSEC2):c.737+191G>A rs60784175 0.00774
NM_001111125.3(IQSEC2):c.737+10291G>A rs189694247 0.00773
NM_001111125.3(IQSEC2):c.737+10705T>C rs142083173 0.00477
NM_001111125.3(IQSEC2):c.3015+14G>C rs189183148 0.00462
NM_001111125.3(IQSEC2):c.2890-213A>G rs186488905 0.00446
NM_001111125.3(IQSEC2):c.738-212G>A rs782512906 0.00411
NM_001111125.3(IQSEC2):c.2750-332T>C rs193250315 0.00410
NM_001111125.3(IQSEC2):c.2583-296C>G rs140424204 0.00408
NM_001111125.3(IQSEC2):c.3016-105T>C rs369997559 0.00364
NM_001111125.3(IQSEC2):c.3277+18G>A rs143966238 0.00306
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602 0.00115
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=) rs782726368 0.00101
NM_001111125.3(IQSEC2):c.2583-234G>T rs182369896 0.00100
NM_001111125.3(IQSEC2):c.3116-310C>T rs181731337 0.00098
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542 0.00062
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=) rs374638286 0.00049
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=) rs782744933 0.00033
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=) rs1057521625 0.00028
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
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.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=) rs782769823 0.00014
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) rs782760727 0.00012
NM_001111125.3(IQSEC2):c.999+4C>T rs199648681 0.00012
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.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 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.214C>T (p.Leu72=) rs782434593 0.00007
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=) rs1408670208 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.3015+9A>G rs781956154 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.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=) rs1057522131 0.00005
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644 0.00005
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335 0.00005
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=) rs371815225 0.00004
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=) rs782668223 0.00004
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=) rs191305900 0.00004
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=) rs1057521782 0.00004
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) rs374511542 0.00003
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) rs782547252 0.00003
NM_001111125.3(IQSEC2):c.2297+13C>T rs782625023 0.00003
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu) rs1057518272 0.00003
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=) rs1167090163 0.00003
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) rs377545286 0.00003
NM_001111125.3(IQSEC2):c.2889+10T>C rs1057523665 0.00003
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=) rs199643273 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 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.635G>A (p.Ser212Asn) rs899393047 0.00003
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn) rs1470379713 0.00003
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 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.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=) rs781979737 0.00002
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=) rs1556880357 0.00002
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369 0.00002
NM_001111125.3(IQSEC2):c.2459+3G>A rs1204856744 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln) rs782632137 0.00002
NM_001111125.3(IQSEC2):c.3278-13G>C rs782674949 0.00002
NM_001111125.3(IQSEC2):c.3278-14C>T rs782292524 0.00002
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) rs374220843 0.00002
NM_001111125.3(IQSEC2):c.3502-15C>T rs1299191132 0.00002
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr) rs782559635 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu) rs1556858927 0.00002
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met) rs1064796639 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001111125.3(IQSEC2):c.708-20T>C rs1397654562 0.00002
NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln) rs1397379867 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.1428C>T (p.Asp476=) rs781915467 0.00001
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln) rs369172518 0.00001
NM_001111125.3(IQSEC2):c.2206C>T (p.Arg736Trp) rs1057524271 0.00001
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=) rs2074366023 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.2459+19G>A rs1057522303 0.00001
NM_001111125.3(IQSEC2):c.3082G>A (p.Val1028Met) rs1085307618 0.00001
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys) rs782569979 0.00001
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser) rs782624844 0.00001
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn) rs1556859667 0.00001
NM_001111125.3(IQSEC2):c.3439C>A (p.Leu1147Ile) rs2074129057 0.00001
NM_001111125.3(IQSEC2):c.3451+17C>T rs1057522236 0.00001
NM_001111125.3(IQSEC2):c.3502-8G>A rs781808329 0.00001
NM_001111125.3(IQSEC2):c.3548C>T (p.Pro1183Leu) rs1302692296 0.00001
NM_001111125.3(IQSEC2):c.3727C>T (p.His1243Tyr) rs1050525102 0.00001
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=) rs1556859096 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val) rs1321322513 0.00001
NM_001111125.3(IQSEC2):c.579C>A (p.Gly193=) rs1556880030 0.00001
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=) rs782083256 0.00001
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=) rs782524925 0.00001
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=) rs1419492759 0.00001
NM_001111125.2(IQSEC2):c.2582+19_2582+29delCGCGAAGCTGCins64
NM_001111125.3(IQSEC2):c.*13G>C rs1057521944
NM_001111125.3(IQSEC2):c.1000-259del rs61173462
NM_001111125.3(IQSEC2):c.1076G>A (p.Arg359His)
NM_001111125.3(IQSEC2):c.1157C>T (p.Ser386Phe)
NM_001111125.3(IQSEC2):c.1165C>T (p.Arg389Trp) rs1556864680
NM_001111125.3(IQSEC2):c.1219G>A (p.Glu407Lys)
NM_001111125.3(IQSEC2):c.1247G>T (p.Gly416Val) rs2147121696
NM_001111125.3(IQSEC2):c.1287G>C (p.Gly429=) rs1556864576
NM_001111125.3(IQSEC2):c.1294T>A (p.Tyr432Asn)
NM_001111125.3(IQSEC2):c.1307G>A (p.Cys436Tyr) rs2147120894
NM_001111125.3(IQSEC2):c.1346C>T (p.Thr449Ile) rs2147120613
NM_001111125.3(IQSEC2):c.1377A>C (p.Glu459Asp) rs2147120382
NM_001111125.3(IQSEC2):c.1401+186_1401+187insTTTTCC rs370967301
NM_001111125.3(IQSEC2):c.1401+199del rs57468463
NM_001111125.3(IQSEC2):c.1402-10C>A rs183644900
NM_001111125.3(IQSEC2):c.1402-11C>A rs187186062
NM_001111125.3(IQSEC2):c.1402-11C>G rs187186062
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.1402-65C>T rs7886988
NM_001111125.3(IQSEC2):c.1402-9del rs781861463
NM_001111125.3(IQSEC2):c.1429G>A (p.Glu477Lys) rs2147104281
NM_001111125.3(IQSEC2):c.1451C>T (p.Ser484Leu)
NM_001111125.3(IQSEC2):c.1483C>A (p.Gln495Lys) rs2147103761
NM_001111125.3(IQSEC2):c.1583C>A (p.Ser528Tyr)
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1610C>A (p.Pro537His) rs2147102528
NM_001111125.3(IQSEC2):c.163A>G (p.Thr55Ala)
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr) rs1064797066
NM_001111125.3(IQSEC2):c.1655C>A (p.Pro552Gln)
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala) rs1556863347
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1691A>C (p.Glu564Ala) rs2147100909
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp) rs1064797067
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=) rs1602283885
NM_001111125.3(IQSEC2):c.1825C>T (p.Arg609Cys) rs1085307736
NM_001111125.3(IQSEC2):c.1861T>G (p.Tyr621Asp)
NM_001111125.3(IQSEC2):c.1925C>T (p.Pro642Leu)
NM_001111125.3(IQSEC2):c.1925dup (p.Ile643fs) rs1556863165
NM_001111125.3(IQSEC2):c.1927A>C (p.Ile643Leu)
NM_001111125.3(IQSEC2):c.1963GCCCCA[3] (p.Pro658_Pro659insAlaPro)
NM_001111125.3(IQSEC2):c.2002A>G (p.Ser668Gly) rs1556863103
NM_001111125.3(IQSEC2):c.2012G>A (p.Gly671Glu)
NM_001111125.3(IQSEC2):c.2013G>T (p.Gly671=) rs1556863095
NM_001111125.3(IQSEC2):c.2021del (p.Gly674fs) rs1556863090
NM_001111125.3(IQSEC2):c.2054A>T (p.Glu685Val)
NM_001111125.3(IQSEC2):c.2098G>T (p.Glu700Ter) rs1556863043
NM_001111125.3(IQSEC2):c.2209G>A (p.Glu737Lys)
NM_001111125.3(IQSEC2):c.2272C>T (p.Arg758Ter) rs886041433
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001111125.3(IQSEC2):c.2297+228C>G rs5933562
NM_001111125.3(IQSEC2):c.2297+7G>A rs1556862951
NM_001111125.3(IQSEC2):c.2298-10C>T rs1057523662
NM_001111125.3(IQSEC2):c.2329G>A (p.Glu777Lys) rs782517076
NM_001111125.3(IQSEC2):c.2329G>T (p.Glu777Ter) rs782517076
NM_001111125.3(IQSEC2):c.235G>A (p.Ala79Thr) rs2146551860
NM_001111125.3(IQSEC2):c.2369A>C (p.His790Pro) rs2147089327
NM_001111125.3(IQSEC2):c.23C>G (p.Pro8Arg) rs1556880353
NM_001111125.3(IQSEC2):c.2407A>G (p.Ile803Val) rs1064795421
NM_001111125.3(IQSEC2):c.2475G>C (p.Glu825Asp)
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2533C>T (p.Arg845Trp)
NM_001111125.3(IQSEC2):c.254G>A (p.Arg85His) rs1556880243
NM_001111125.3(IQSEC2):c.2579_2582+12del rs1556862426
NM_001111125.3(IQSEC2):c.2645dup (p.Ile883fs) rs1602277592
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn) rs1602277527
NM_001111125.3(IQSEC2):c.2749+1G>A rs1556862167
NM_001111125.3(IQSEC2):c.2750-9C>T rs1556861395
NM_001111125.3(IQSEC2):c.2759A>G (p.Asn920Ser)
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.2803C>T (p.Arg935Cys)
NM_001111125.3(IQSEC2):c.2811G>C (p.Gln937His) rs781835138
NM_001111125.3(IQSEC2):c.2815C>T (p.Arg939Cys)
NM_001111125.3(IQSEC2):c.2866C>T (p.Arg956Cys) rs2147059598
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2890-3T>G rs2147050192
NM_001111125.3(IQSEC2):c.2890-56A>C rs2274307
NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys) rs2074227300
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys) rs1556860910
NM_001111125.3(IQSEC2):c.296del (p.His99fs) rs1064793152
NM_001111125.3(IQSEC2):c.2979T>G (p.His993Gln) rs2147049519
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2983del (p.Arg995fs) rs1602268620
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.3016-1dup rs1556860401
NM_001111125.3(IQSEC2):c.3016-242A>G rs146633237
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del) rs1556860396
NM_001111125.3(IQSEC2):c.3055T>C (p.Tyr1019His)
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro) rs782632137
NM_001111125.3(IQSEC2):c.3250C>T (p.Gln1084Ter) rs1064796614
NM_001111125.3(IQSEC2):c.3277+5G>A rs1064795725
NM_001111125.3(IQSEC2):c.3278-158A>G rs2296541
NM_001111125.3(IQSEC2):c.3278-5C>G rs1085307630
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His) rs868984872
NM_001111125.3(IQSEC2):c.339C>A (p.Asp113Glu)
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter) rs1556859652
NM_001111125.3(IQSEC2):c.3452-163_3452-161del rs199609782
NM_001111125.3(IQSEC2):c.3452-40del rs782107172
NM_001111125.3(IQSEC2):c.3452-46G>C rs188161608
NM_001111125.3(IQSEC2):c.3457C>T (p.Arg1153Trp) rs2147010353
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
NM_001111125.3(IQSEC2):c.3475G>A (p.Val1159Met) rs2147010117
NM_001111125.3(IQSEC2):c.3502-2del rs1131691650
NM_001111125.3(IQSEC2):c.3515dup (p.Ser1172fs) rs2147006430
NM_001111125.3(IQSEC2):c.3533A>G (p.Gln1178Arg) rs2147006326
NM_001111125.3(IQSEC2):c.3564G>C (p.Pro1188=) rs1489138425
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile) rs2147004930
NM_001111125.3(IQSEC2):c.3679C>T (p.Gln1227Ter) rs1556859257
NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3717CCA[6] (p.His1247del) rs782189881
NM_001111125.3(IQSEC2):c.3718dup (p.His1240fs) rs1602257730
NM_001111125.3(IQSEC2):c.3793C>T (p.Gln1265Ter) rs1064795806
NM_001111125.3(IQSEC2):c.3849C>G (p.Leu1283=) rs1556859155
NM_001111125.3(IQSEC2):c.3856C>T (p.Gln1286Ter) rs1569291654
NM_001111125.3(IQSEC2):c.3886C>T (p.Gln1296Ter) rs1064795460
NM_001111125.3(IQSEC2):c.3913T>G (p.Ser1305Ala)
NM_001111125.3(IQSEC2):c.3931G>A (p.Ala1311Thr)
NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys) rs1556859104
NM_001111125.3(IQSEC2):c.4000T>C (p.Tyr1334His) rs2147002472
NM_001111125.3(IQSEC2):c.4027_4030dup (p.Arg1344fs) rs1064793569
NM_001111125.3(IQSEC2):c.4039G>A (p.Ala1347Thr) rs2074097651
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4093A>C (p.Thr1365Pro) rs2147001902
NM_001111125.3(IQSEC2):c.409G>A (p.Ala137Thr) rs2146550740
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=) rs1214109386
NM_001111125.3(IQSEC2):c.4113C>G (p.Tyr1371Ter) rs781846571
NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)
NM_001111125.3(IQSEC2):c.4174C>T (p.His1392Tyr)
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=) rs1556859017
NM_001111125.3(IQSEC2):c.4255dup (p.His1419fs) rs1602256663
NM_001111125.3(IQSEC2):c.4300del (p.His1434fs) rs1064795324
NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)
NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu) rs2146999756
NM_001111125.3(IQSEC2):c.4433del (p.Lys1478fs)
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
NM_001111125.3(IQSEC2):c.4458C>T (p.Thr1486=) rs1452805840
NM_001111125.3(IQSEC2):c.445G>A (p.Ala149Thr) rs1556880140
NM_001111125.3(IQSEC2):c.4463T>C (p.Val1488Ala) rs1556858900
NM_001111125.3(IQSEC2):c.4465T>A (p.Ter1489Arg) rs2146999591
NM_001111125.3(IQSEC2):c.44G>C (p.Ser15Thr)
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met) rs2075421767
NM_001111125.3(IQSEC2):c.503G>T (p.Arg168Leu) rs1057518254
NM_001111125.3(IQSEC2):c.504C>G (p.Arg168=) rs1556880099
NM_001111125.3(IQSEC2):c.567G>A (p.Ser189=) rs782020682
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=) rs2146549172
NM_001111125.3(IQSEC2):c.587C>A (p.Pro196Gln) rs2075419503
NM_001111125.3(IQSEC2):c.598C>G (p.Arg200Gly) rs1602382928
NM_001111125.3(IQSEC2):c.649G>T (p.Ala217Ser)
NM_001111125.3(IQSEC2):c.713A>T (p.Asp238Val) rs2146425989
NM_001111125.3(IQSEC2):c.737+11962CTCC[5] rs200286632
NM_001111125.3(IQSEC2):c.797_806dup (p.Tyr269Ter) rs1602293823
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.827C>A (p.Pro276His)
NM_001111125.3(IQSEC2):c.836G>A (p.Ser279Asn) rs2147128288
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.850C>A (p.Pro284Thr) rs782531514
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001111125.3(IQSEC2):c.883C>T (p.Arg295Trp) rs2147127878
NM_001111125.3(IQSEC2):c.886del (p.Ala296fs) rs1602293563
NM_001111125.3(IQSEC2):c.889C>T (p.Arg297Cys) rs990189482
NM_001111125.3(IQSEC2):c.908T>G (p.Val303Gly)
NM_001111125.3(IQSEC2):c.952G>T (p.Ala318Ser)
NM_001111125.3(IQSEC2):c.999+11G>A rs1602293293
NM_001243197.2(IQSEC2):c.73G>C (p.Val25Leu)

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