ClinVar Miner

List of variants studied for MHC class II deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
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HGVS dbSNP
NC_000016.10:g.(?_10877311)_(10923323_?)del
NM_000246.3(CIITA):c.1010C>T (p.Pro337Leu) rs147670132
NM_000246.3(CIITA):c.1028G>T (p.Arg343Leu) rs765940448
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1053C>T (p.Ala351=) rs147912483
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.109C>A (p.Leu37Ile)
NM_000246.3(CIITA):c.1130G>C (p.Ser377Thr)
NM_000246.3(CIITA):c.1149C>T (p.Ala383=) rs748867171
NM_000246.3(CIITA):c.1155G>A (p.Pro385=) rs930885758
NM_000246.3(CIITA):c.1183G>A (p.Gly395Arg) rs953080654
NM_000246.3(CIITA):c.1225C>T (p.Arg409Trp) rs137895901
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1231C>T (p.Arg411Cys)
NM_000246.3(CIITA):c.1241G>T (p.Arg414Leu) rs572327540
NM_000246.3(CIITA):c.1304G>A (p.Arg435Gln) rs756879407
NM_000246.3(CIITA):c.1314T>C (p.Ala438=) rs749994940
NM_000246.3(CIITA):c.1332G>A (p.Gln444=) rs1596550338
NM_000246.3(CIITA):c.1344C>A (p.Val448=) rs372566990
NM_000246.3(CIITA):c.1389T>C (p.Tyr463=) rs1306793050
NM_000246.3(CIITA):c.1416G>A (p.Leu472=) rs757999354
NM_000246.3(CIITA):c.1416G>T (p.Leu472=) rs757999354
NM_000246.3(CIITA):c.141C>G (p.Leu47=) rs770687816
NM_000246.3(CIITA):c.1429C>A (p.Leu477Ile) rs150205851
NM_000246.3(CIITA):c.1437G>A (p.Ala479=) rs779022639
NM_000246.3(CIITA):c.1444G>A (p.Glu482Lys) rs772224355
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.1486C>T (p.Leu496Phe) rs756970534
NM_000246.3(CIITA):c.1491C>T (p.Ile497=) rs138250353
NM_000246.3(CIITA):c.1498G>A (p.Gly500Ser)
NM_000246.3(CIITA):c.14C>G (p.Ala5Gly) rs1596412331
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1545C>T (p.Cys515=) rs200146904
NM_000246.3(CIITA):c.1556C>T (p.Pro519Leu) rs141006925
NM_000246.3(CIITA):c.1558G>T (p.Ala520Ser)
NM_000246.3(CIITA):c.1559C>T (p.Ala520Val) rs561841137
NM_000246.3(CIITA):c.1572C>T (p.Ser524=) rs745753805
NM_000246.3(CIITA):c.1577G>A (p.Arg526Gln) rs200240463
NM_000246.3(CIITA):c.1579G>C (p.Gly527Arg) rs35451230
NM_000246.3(CIITA):c.1590C>T (p.Ala530=) rs765568149
NM_000246.3(CIITA):c.1591G>A (p.Gly531Ser) rs144646271
NM_000246.3(CIITA):c.1620T>C (p.Gly540=) rs547699469
NM_000246.3(CIITA):c.1643G>A (p.Arg548Gln) rs376916824
NM_000246.3(CIITA):c.1643G>T (p.Arg548Leu) rs376916824
NM_000246.3(CIITA):c.1683C>T (p.Asp561=) rs76686583
NM_000246.3(CIITA):c.1684G>A (p.Ala562Thr) rs199476070
NM_000246.3(CIITA):c.1702G>A (p.Gly568Ser) rs749343874
NM_000246.3(CIITA):c.170C>A (p.Ala57Asp) rs1555500356
NM_000246.3(CIITA):c.1720G>A (p.Ala574Thr) rs148543906
NM_000246.3(CIITA):c.1732G>A (p.Val578Met)
NM_000246.3(CIITA):c.1740C>G (p.Arg580=) rs78666334
NM_000246.3(CIITA):c.1791C>G (p.Leu597=) rs201657235
NM_000246.3(CIITA):c.1795C>T (p.Arg599Trp)
NM_000246.3(CIITA):c.1803G>C (p.Arg601=) rs758215284
NM_000246.3(CIITA):c.1814T>G (p.Leu605Arg) rs1482462500
NM_000246.3(CIITA):c.1834A>G (p.Thr612Ala)
NM_000246.3(CIITA):c.1844G>A (p.Arg615Gln)
NM_000246.3(CIITA):c.1856A>G (p.Gln619Arg) rs371603520
NM_000246.3(CIITA):c.1908G>A (p.Thr636=) rs200398959
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.1940G>A (p.Arg647His) rs757021053
NM_000246.3(CIITA):c.1957C>A (p.Pro653Thr) rs199476071
NM_000246.3(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.3(CIITA):c.1973C>G (p.Ala658Gly) rs2229319
NM_000246.3(CIITA):c.200-10T>C rs45474796
NM_000246.3(CIITA):c.2006G>A (p.Arg669His) rs745446439
NM_000246.3(CIITA):c.2025A>G (p.Leu675=) rs200253132
NM_000246.3(CIITA):c.2026C>T (p.Gln676Ter) rs901844850
NM_000246.3(CIITA):c.2028G>C (p.Gln676His) rs112852440
NM_000246.3(CIITA):c.2059A>G (p.Thr687Ala) rs201080914
NM_000246.3(CIITA):c.2072C>A (p.Ala691Asp) rs78108426
NM_000246.3(CIITA):c.2098C>T (p.Arg700Trp) rs770284013
NM_000246.3(CIITA):c.2099G>A (p.Arg700Gln) rs749350138
NM_000246.3(CIITA):c.20G>A (p.Arg7His) rs374703179
NM_000246.3(CIITA):c.2104G>A (p.Ala702Thr)
NM_000246.3(CIITA):c.2112C>T (p.Ser704=) rs1463138775
NM_000246.3(CIITA):c.2135T>C (p.Leu712Pro)
NM_000246.3(CIITA):c.2142A>G (p.Gln714=)
NM_000246.3(CIITA):c.2154G>A (p.Gly718=) rs201455192
NM_000246.3(CIITA):c.2178C>T (p.Gly726=) rs150014874
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.3(CIITA):c.2184C>G (p.Ile728Met) rs746167072
NM_000246.3(CIITA):c.225C>T (p.Cys75=) rs2229318
NM_000246.3(CIITA):c.2286C>A (p.Ile762=) rs35976871
NM_000246.3(CIITA):c.2322C>T (p.Leu774=) rs77072504
NM_000246.3(CIITA):c.2331G>A (p.Ser777=)
NM_000246.3(CIITA):c.2343G>A (p.Ser781=) rs749019138
NM_000246.3(CIITA):c.2348A>C (p.Asp783Ala) rs771514619
NM_000246.3(CIITA):c.2356C>A (p.Gln786Lys) rs199476072
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2408C>T (p.Ala803Val) rs577781366
NM_000246.3(CIITA):c.2436C>T (p.Cys812=) rs771994666
NM_000246.3(CIITA):c.2442C>T (p.His814=) rs746490057
NM_000246.3(CIITA):c.2448C>T (p.Ala816=) rs112250421
NM_000246.3(CIITA):c.2472C>T (p.His824=) rs45621432
NM_000246.3(CIITA):c.2478A>G (p.Val826=) rs376456953
NM_000246.3(CIITA):c.2494C>G (p.Arg832Gly) rs778521786
NM_000246.3(CIITA):c.2536C>T (p.His846Tyr)
NM_000246.3(CIITA):c.2539G>A (p.Val847Ile) rs181710482
NM_000246.3(CIITA):c.2544G>A (p.Leu848=) rs1567423502
NM_000246.3(CIITA):c.2551G>A (p.Ala851Thr)
NM_000246.3(CIITA):c.2576T>G (p.Phe859Cys)
NM_000246.3(CIITA):c.2610C>G (p.Pro870=) rs1025580450
NM_000246.3(CIITA):c.2617T>C (p.Leu873=) rs368233530
NM_000246.3(CIITA):c.2649C>T (p.Thr883=) rs969921250
NM_000246.3(CIITA):c.2657+1G>A
NM_000246.3(CIITA):c.2657+4G>A rs1596557195
NM_000246.3(CIITA):c.2674A>G (p.Thr892Ala) rs139200062
NM_000246.3(CIITA):c.2682G>A (p.Ala894=) rs148091568
NM_000246.3(CIITA):c.2691G>T (p.Glu897Asp) rs764994021
NM_000246.3(CIITA):c.2698_2699inv (p.Gln900Trp)
NM_000246.3(CIITA):c.2758T>C (p.Phe920Leu) rs570003993
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2819C>T (p.Thr940Met)
NM_000246.3(CIITA):c.2832G>A (p.Ser944=) rs766538754
NM_000246.3(CIITA):c.2864G>A (p.Arg955Gln) rs202244966
NM_000246.3(CIITA):c.286G>A (p.Ala96Thr) rs149253747
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.2889-5C>T rs1555507408
NM_000246.3(CIITA):c.2892G>A (p.Leu964=) rs200599265
NM_000246.3(CIITA):c.2899G>T (p.Val967Phe) rs201571405
NM_000246.3(CIITA):c.2924A>G (p.Lys975Arg) rs140103491
NM_000246.3(CIITA):c.2942C>T (p.Thr981Met) rs369744959
NM_000246.3(CIITA):c.2978C>T (p.Ala993Val) rs547505584
NM_000246.3(CIITA):c.2979G>A (p.Ala993=) rs142031278
NM_000246.3(CIITA):c.3000G>A (p.Gly1000=) rs200212249
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3015G>A (p.Ser1005=) rs764664500
NM_000246.3(CIITA):c.3025_3026delinsAA (p.Ala1009Asn) rs1596593191
NM_000246.3(CIITA):c.3033C>G (p.Phe1011Leu) rs576290462
NM_000246.3(CIITA):c.307C>A (p.Gln103Lys) rs371519540
NM_000246.3(CIITA):c.3108C>T (p.Ala1036=) rs150276623
NM_000246.3(CIITA):c.3123G>T (p.Ser1041=) rs138925894
NM_000246.3(CIITA):c.3150-6C>T rs192219239
NM_000246.3(CIITA):c.3175G>A (p.Val1059Met) rs200742204
NM_000246.3(CIITA):c.3180A>G (p.Gly1060=) rs748093417
NM_000246.3(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192
NM_000246.3(CIITA):c.3219C>T (p.Ser1073=) rs1427439897
NM_000246.3(CIITA):c.3233+8_3233+9del rs774399663
NM_000246.3(CIITA):c.3255G>A (p.Thr1085=) rs75521576
NM_000246.3(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.3(CIITA):c.3309G>A (p.Glu1103=) rs1319803512
NM_000246.3(CIITA):c.3311C>T (p.Thr1104Met) rs367805896
NM_000246.3(CIITA):c.3326C>G (p.Thr1109Arg) rs1013962316
NM_000246.3(CIITA):c.3327G>A (p.Thr1109=) rs776446459
NM_000246.3(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505
NM_000246.3(CIITA):c.3352G>A (p.Glu1118Lys) rs1555509348
NM_000246.3(CIITA):c.3357C>T (p.His1119=) rs754706834
NM_000246.3(CIITA):c.3377G>A (p.Arg1126Gln) rs1596619583
NM_000246.3(CIITA):c.352A>G (p.Ile118Val) rs142443082
NM_000246.3(CIITA):c.370C>A (p.Pro124Thr) rs77169590
NM_000246.3(CIITA):c.384C>T (p.Ile128=) rs140106499
NM_000246.3(CIITA):c.386G>A (p.Gly129Asp) rs1447982238
NM_000246.3(CIITA):c.38T>C (p.Leu13Pro) rs753169767
NM_000246.3(CIITA):c.413T>C (p.Val138Ala) rs142469968
NM_000246.3(CIITA):c.44A>G (p.Glu15Gly) rs572170388
NM_000246.3(CIITA):c.455C>T (p.Pro152Leu) rs774695473
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.460G>A (p.Asp154Asn) rs76923280
NM_000246.3(CIITA):c.487C>A (p.Pro163Thr) rs555184617
NM_000246.3(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.3(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000246.3(CIITA):c.494C>T (p.Thr165Ile)
NM_000246.3(CIITA):c.52+9G>A rs199476060
NM_000246.3(CIITA):c.520G>A (p.Gly174Arg) rs8046121
NM_000246.3(CIITA):c.544C>A (p.Leu182Met) rs747552747
NM_000246.3(CIITA):c.565G>A (p.Ala189Thr) rs370429955
NM_000246.3(CIITA):c.566C>T (p.Ala189Val) rs149076617
NM_000246.3(CIITA):c.567G>A (p.Ala189=) rs143123121
NM_000246.3(CIITA):c.592G>A (p.Gly198Ser) rs148279688
NM_000246.3(CIITA):c.5G>A (p.Arg2His) rs755048657
NM_000246.3(CIITA):c.602G>A (p.Arg201His) rs563299137
NM_000246.3(CIITA):c.629-9C>T rs372749477
NM_000246.3(CIITA):c.691C>T (p.Pro231Ser) rs147472574
NM_000246.3(CIITA):c.772+5G>T rs376221650
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000246.3(CIITA):c.772+9G>A rs750572482
NM_000246.3(CIITA):c.773-9C>G rs756972663
NM_000246.3(CIITA):c.78G>C (p.Glu26Asp) rs775957955
NM_000246.3(CIITA):c.807C>T (p.Pro269=) rs137859900
NM_000246.3(CIITA):c.825C>T (p.His275=) rs746766830
NM_000246.3(CIITA):c.826G>A (p.Gly276Ser) rs142461515
NM_000246.3(CIITA):c.835A>G (p.Thr279Ala)
NM_000246.3(CIITA):c.898A>C (p.Met300Leu) rs747702495
NM_000246.3(CIITA):c.922C>T (p.Arg308Ter) rs567218474
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000246.3(CIITA):c.947C>T (p.Thr316Met)
NM_000246.3(CIITA):c.963C>T (p.Cys321=) rs781290238
NM_000246.3(CIITA):c.970G>T (p.Ala324Ser)
NM_000246.3(CIITA):c.979G>A (p.Val327Ile)
NM_000449.3(RFX5):c.1020_1022dup (p.Ile341dup) rs1571257755
NM_000449.3(RFX5):c.1037T>A (p.Val346Asp) rs776636293
NM_000449.3(RFX5):c.1039T>C (p.Ser347Pro) rs199761884
NM_000449.3(RFX5):c.1092A>G (p.Thr364=) rs753408194
NM_000449.3(RFX5):c.1114G>C (p.Gly372Arg) rs968244065
NM_000449.3(RFX5):c.1150A>T (p.Ile384Phe) rs1478758721
NM_000449.3(RFX5):c.1185A>G (p.Gly395=) rs372560621
NM_000449.3(RFX5):c.1322C>G (p.Ala441Gly) rs148572733
NM_000449.3(RFX5):c.1323C>T (p.Ala441=) rs1233467888
NM_000449.3(RFX5):c.1379G>A (p.Ser460Asn) rs142053610
NM_000449.3(RFX5):c.1393A>C (p.Lys465Gln) rs375408133
NM_000449.3(RFX5):c.1406C>T (p.Pro469Leu) rs756355701
NM_000449.3(RFX5):c.1409G>A (p.Arg470Gln) rs138131380
NM_000449.3(RFX5):c.1415A>T (p.Lys472Met) rs1265793800
NM_000449.3(RFX5):c.1455G>A (p.Lys485=) rs543484330
NM_000449.3(RFX5):c.1495C>T (p.Pro499Ser) rs2233855
NM_000449.3(RFX5):c.1510G>A (p.Gly504Ser) rs372047964
NM_000449.3(RFX5):c.1569G>A (p.Glu523=) rs137968641
NM_000449.3(RFX5):c.1639G>A (p.Gly547Ser) rs147579805
NM_000449.3(RFX5):c.1688C>T (p.Ser563Leu) rs150072792
NM_000449.3(RFX5):c.1805G>A (p.Ser602Asn) rs371115213
NM_000449.3(RFX5):c.1830C>G (p.Asp610Glu) rs141889707
NM_000449.3(RFX5):c.1838del (p.Ala613fs) rs1557829420
NM_000449.3(RFX5):c.222T>G (p.Thr74=) rs145198853
NM_000449.3(RFX5):c.233+4G>C rs2233846
NM_000449.3(RFX5):c.312dup (p.Asp105Ter) rs1571262081
NM_000449.3(RFX5):c.40G>A (p.Gly14Arg) rs143245407
NM_000449.3(RFX5):c.415A>G (p.Ile139Val) rs1363432272
NM_000449.3(RFX5):c.446G>A (p.Arg149Gln) rs137853099
NM_000449.3(RFX5):c.477T>C (p.Tyr159=) rs144353639
NM_000449.3(RFX5):c.547T>C (p.Ser183Pro) rs192832486
NM_000449.3(RFX5):c.556-2A>G rs1571260171
NM_000449.3(RFX5):c.590G>A (p.Arg197Gln) rs2233851
NM_000449.3(RFX5):c.603G>A (p.Val201=) rs776987628
NM_000449.3(RFX5):c.609del (p.Ala204fs) rs1571260017
NM_000449.3(RFX5):c.64G>A (p.Ala22Thr) rs2233843
NM_000449.3(RFX5):c.678C>T (p.Val226=) rs559709373
NM_000449.3(RFX5):c.753T>C (p.Leu251=) rs1752386
NM_000449.3(RFX5):c.778C>T (p.Arg260Trp) rs573462368
NM_000449.3(RFX5):c.803A>G (p.Asn268Ser) rs1571258872
NM_000449.3(RFX5):c.892G>A (p.Gly298Ser) rs146341254
NM_000449.3(RFX5):c.900C>T (p.Leu300=) rs2233853
NM_000449.3(RFX5):c.938C>T (p.Ser313Leu) rs140885618
NM_000449.3(RFX5):c.982C>A (p.Arg328=) rs78854744
NM_000449.3(RFX5):c.984G>A (p.Arg328=) rs374283593
NM_000538.3(RFXAP):c.120_125dup (p.Ala41_Ser42dup) rs763202512
NM_000538.3(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845
NM_000538.3(RFXAP):c.129A>G (p.Gln43=) rs762143349
NM_000538.3(RFXAP):c.14G>T (p.Gly5Val) rs571468892
NM_000538.3(RFXAP):c.192C>G (p.Ser64Arg) rs758076793
NM_000538.3(RFXAP):c.222G>A (p.Leu74=) rs1460528998
NM_000538.3(RFXAP):c.236G>A (p.Gly79Glu) rs1458111935
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000538.3(RFXAP):c.265G>C (p.Glu89Gln) rs1290515755
NM_000538.3(RFXAP):c.297G>C (p.Pro99=) rs183370317
NM_000538.3(RFXAP):c.302G>C (p.Gly101Ala) rs1474685587
NM_000538.3(RFXAP):c.312C>T (p.Ser104=) rs373233313
NM_000538.3(RFXAP):c.343G>A (p.Glu115Lys) rs1593530039
NM_000538.3(RFXAP):c.354G>C (p.Ser118=) rs113555392
NM_000538.3(RFXAP):c.410T>C (p.Met137Thr) rs193240312
NM_000538.3(RFXAP):c.430G>A (p.Glu144Lys) rs201754085
NM_000538.3(RFXAP):c.455A>G (p.Gln152Arg) rs373832619
NM_000538.3(RFXAP):c.456G>C (p.Gln152His) rs201926069
NM_000538.3(RFXAP):c.467A>G (p.Gln156Arg) rs1566318990
NM_000538.3(RFXAP):c.503A>G (p.Lys168Arg) rs1437034327
NM_000538.3(RFXAP):c.573T>A (p.Thr191=) rs200198351
NM_000538.3(RFXAP):c.58C>T (p.His20Tyr) rs1555302467
NM_000538.3(RFXAP):c.59A>G (p.His20Arg) rs775615242
NM_000538.3(RFXAP):c.666A>G (p.Ala222=) rs139675642
NM_000538.3(RFXAP):c.672T>C (p.Pro224=) rs866409620
NM_000538.3(RFXAP):c.699A>G (p.Gln233=) rs202180471
NM_000538.3(RFXAP):c.709-7_709-4del rs749945016
NM_000538.3(RFXAP):c.756A>G (p.Gln252=) rs141918438
NM_000538.3(RFXAP):c.77C>G (p.Pro26Arg) rs763162669
NM_000538.3(RFXAP):c.788G>A (p.Arg263Lys) rs144169233
NM_000538.3(RFXAP):c.814A>G (p.Met272Val) rs772726674
NM_000538.4(RFXAP):c.123C>T (p.Ala41=) rs764409673
NM_000538.4(RFXAP):c.150A>T (p.Gln50His)
NM_000538.4(RFXAP):c.175G>A (p.Ala59Thr)
NM_000538.4(RFXAP):c.204C>T (p.Gly68=)
NM_000538.4(RFXAP):c.232G>C (p.Ala78Pro)
NM_000538.4(RFXAP):c.279A>C (p.Leu93Phe)
NM_000538.4(RFXAP):c.298G>C (p.Gly100Arg)
NM_000538.4(RFXAP):c.353C>T (p.Ser118Leu)
NM_000538.4(RFXAP):c.459G>A (p.Val153=) rs112803942
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln)
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val)
NM_001025603.2(RFX5):c.10G>A (p.Asp4Asn)
NM_001025603.2(RFX5):c.1159A>G (p.Thr387Ala)
NM_001025603.2(RFX5):c.1201G>A (p.Ala401Thr)
NM_001025603.2(RFX5):c.1202C>T (p.Ala401Val)
NM_001025603.2(RFX5):c.1490G>C (p.Arg497Thr)
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr)
NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu)
NM_001025603.2(RFX5):c.382C>T (p.Arg128Cys)
NM_001025603.2(RFX5):c.514A>G (p.Met172Val)
NM_001025603.2(RFX5):c.785G>A (p.Arg262Gln)
NM_001025603.2(RFX5):c.833A>T (p.His278Leu)
NM_001025603.2(RFX5):c.851T>C (p.Leu284Pro)
NM_001025603.2(RFX5):c.901G>A (p.Ala301Thr)
NM_003721.4(RFXANK):c.132C>T (p.Pro44=) rs745351660
NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu)
NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr) rs150525759
NM_003721.4(RFXANK):c.191G>T (p.Gly64Val)
NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp) rs368808881
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634
NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys) rs779382779
NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu)
NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis) rs1568578747
NM_003721.4(RFXANK):c.271_271+1insCTGCC rs1568578781
NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr)
NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp) rs764895631
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln) rs752109217
NM_003721.4(RFXANK):c.337+4C>T rs187331767
NM_003721.4(RFXANK):c.337+5G>A rs752168879
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003721.4(RFXANK):c.438+4C>T rs749058206
NM_003721.4(RFXANK):c.438+5G>A
NM_003721.4(RFXANK):c.438+8C>G rs768313740
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304
NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr)
NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala) rs1156936548
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) rs372111384
NM_003721.4(RFXANK):c.595C>T (p.Arg199Cys) rs749859039
NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg) rs748578827
NM_003721.4(RFXANK):c.602A>T (p.Asn201Ile) rs1599785560
NM_003721.4(RFXANK):c.612A>G (p.Lys204=) rs201676379
NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) rs140748502
NM_003721.4(RFXANK):c.654C>T (p.Thr218=) rs8862
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319
NM_003721.4(RFXANK):c.708G>T (p.Arg236=) rs781614267
NM_003721.4(RFXANK):c.712+4A>G rs73922830
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu) rs1802498
NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly)
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972
NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser) rs759707164
NM_003721.4(RFXANK):c.775C>T (p.Pro259Ser) rs199868077
NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys)
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359

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