ClinVar Miner

List of variants studied for Insulin-dependent diabetes mellitus secretory diarrhea syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
NM_014009.4(FOXP3):c.648-13T>A rs190739204 0.00201
NM_014009.4(FOXP3):c.210+16C>T rs372471440 0.00165
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_014009.4(FOXP3):c.1044+17G>A rs11465478 0.00026
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp) rs200554980 0.00023
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile) rs74162067 0.00019
NM_014009.4(FOXP3):c.455-6C>T rs373767482 0.00018
NM_014009.4(FOXP3):c.112G>T (p.Ala38Ser) rs782239006 0.00014
NM_014009.4(FOXP3):c.249G>C (p.Gly83=) rs782210800 0.00013
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys) rs369332983 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_014009.4(FOXP3):c.30G>A (p.Ser10=) rs142994383 0.00010
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) rs148215677 0.00010
NM_014009.4(FOXP3):c.647+19T>G rs371187277 0.00008
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_014009.4(FOXP3):c.1221C>T (p.Thr407=) rs373302430 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_014009.4(FOXP3):c.659C>T (p.Ala220Val) rs2232369 0.00007
NM_014009.4(FOXP3):c.1147-13C>T rs782632308 0.00006
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) rs782786757 0.00006
NM_014009.4(FOXP3):c.825C>T (p.Ser275=) rs1405637345 0.00006
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) rs782267196 0.00005
NM_014009.4(FOXP3):c.1240C>T (p.Arg414Cys) rs781854593 0.00005
NM_014009.4(FOXP3):c.816+6C>T rs781919619 0.00005
NM_014009.4(FOXP3):c.873C>T (p.Val291=) rs782371089 0.00005
NM_014009.4(FOXP3):c.1295G>A (p.Ter432=) rs782112916 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_014009.4(FOXP3):c.323C>T (p.Thr108Met) rs782572328 0.00004
NM_014009.4(FOXP3):c.331G>A (p.Ala111Thr) rs1424687079 0.00004
NM_014009.4(FOXP3):c.670C>G (p.Leu224Val) rs373242883 0.00004
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp) rs200928046 0.00004
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) rs782731811 0.00004
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) rs782127412 0.00003
NM_014009.4(FOXP3):c.1106G>A (p.Arg369His) rs782443295 0.00003
NM_014009.4(FOXP3):c.246C>T (p.Ser82=) rs368483472 0.00003
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) rs781920028 0.00003
NM_014009.4(FOXP3):c.634G>C (p.Glu212Gln) rs140794570 0.00003
NM_014009.4(FOXP3):c.735+14G>A rs782539969 0.00003
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val) rs369698589 0.00003
NM_014009.4(FOXP3):c.105G>A (p.Leu35=) rs782359163 0.00002
NM_014009.4(FOXP3):c.1116C>A (p.Ala372=) rs1303706775 0.00002
NM_014009.4(FOXP3):c.1146+17T>C rs782486668 0.00002
NM_014009.4(FOXP3):c.116G>A (p.Arg39Gln) rs782639786 0.00002
NM_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) rs28935477 0.00002
NM_014009.4(FOXP3):c.1200C>T (p.Ser400=) rs201723322 0.00002
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) rs1432262933 0.00002
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg) rs587780340 0.00002
NM_014009.4(FOXP3):c.201G>A (p.Ser67=) rs1296610779 0.00002
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln) rs782628979 0.00002
NM_014009.4(FOXP3):c.352C>G (p.Leu118Val) rs1373580534 0.00002
NM_014009.4(FOXP3):c.437G>A (p.Arg146Gln) rs1557116525 0.00002
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) rs781856708 0.00002
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) rs1237648287 0.00002
NM_014009.4(FOXP3):c.525T>C (p.Ser175=) rs1441216420 0.00002
NM_014009.4(FOXP3):c.611G>A (p.Cys204Tyr) rs368066149 0.00002
NM_014009.4(FOXP3):c.69G>A (p.Ser23=) rs376670807 0.00002
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) rs1557116742 0.00002
NM_014009.4(FOXP3):c.736-14G>A rs76798919 0.00002
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe) rs1395972442 0.00002
NM_014009.4(FOXP3):c.836C>T (p.Ser279Phe) rs781902347 0.00002
NM_014009.4(FOXP3):c.896G>A (p.Arg299Gln) rs782188307 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_014009.4(FOXP3):c.1032G>A (p.Thr344=) rs781905807 0.00001
NM_014009.4(FOXP3):c.1045-13C>T rs781966644 0.00001
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) rs1428528910 0.00001
NM_014009.4(FOXP3):c.119G>A (p.Gly40Asp) rs781805416 0.00001
NM_014009.4(FOXP3):c.124G>A (p.Gly42Arg) rs782178764 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014009.4(FOXP3):c.211-20C>A rs781982592 0.00001
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg) rs868911396 0.00001
NM_014009.4(FOXP3):c.315+8C>T rs782558220 0.00001
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) rs782694663 0.00001
NM_014009.4(FOXP3):c.552G>A (p.Ser184=) rs782085584 0.00001
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) rs782377881 0.00001
NM_014009.4(FOXP3):c.625G>A (p.Glu209Lys) rs143048239 0.00001
NM_014009.4(FOXP3):c.631C>G (p.Pro211Ala) rs374109896 0.00001
NM_014009.4(FOXP3):c.647+16C>T rs2066075855 0.00001
NM_014009.4(FOXP3):c.648-15C>T rs1183403474 0.00001
NM_014009.4(FOXP3):c.711G>A (p.Glu237=) rs1557116204 0.00001
NM_014009.4(FOXP3):c.805G>A (p.Ala269Thr) rs781999579 0.00001
NM_014009.4(FOXP3):c.817-9C>T rs1166432395 0.00001
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NC_000023.10:g.(?_46466387)_(50659607_?)del
NC_000023.10:g.(?_48932462)_(49840657_?)dup
NM_014009.4(FOXP3):c.*878A>G rs2066021673
NM_014009.4(FOXP3):c.-23+3G>A
NM_014009.4(FOXP3):c.-23+4A>G rs1216773491
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) rs2066044949
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) rs886044787
NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)
NM_014009.4(FOXP3):c.1026C>T (p.Tyr342=)
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) rs782649847
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) rs782539207
NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val) rs1557115789
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) rs1557115786
NM_014009.4(FOXP3):c.1044+16C>T
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) rs2066044558
NM_014009.4(FOXP3):c.1045-11C>G rs74162068
NM_014009.4(FOXP3):c.1045-11C>T rs74162068
NM_014009.4(FOXP3):c.1045-14C>T
NM_014009.4(FOXP3):c.1045-15C>A
NM_014009.4(FOXP3):c.1045-15_1045-9del rs1428795908
NM_014009.4(FOXP3):c.1045-17C>T rs2147944472
NM_014009.4(FOXP3):c.1045-6T>C
NM_014009.4(FOXP3):c.1080C>G (p.Leu360=) rs2147944398
NM_014009.4(FOXP3):c.1087A>G (p.Ile363Val) rs2147944391
NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) rs122467175
NM_014009.4(FOXP3):c.1119C>T (p.Phe373=)
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp) rs1557115591
NM_014009.4(FOXP3):c.1146+16G>C
NM_014009.4(FOXP3):c.1146+8C>T
NM_014009.4(FOXP3):c.1147-12G>A rs370285865
NM_014009.4(FOXP3):c.1147-12G>C
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) rs122467170
NM_014009.4(FOXP3):c.1151C>T (p.Ala384Val) rs2147944159
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) rs1057520529
NM_014009.4(FOXP3):c.1191G>T (p.Arg397=)
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) rs1557115532
NM_014009.4(FOXP3):c.1227T>C (p.Asp409=)
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile) rs1569529568
NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn) rs2066029945
NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)
NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)
NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn) rs1317916668
NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
NM_014009.4(FOXP3):c.1257G>C (p.Gln419His) rs2066029760
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) rs1569529565
NM_014009.4(FOXP3):c.1277A>G (p.Asn426Ser)
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) rs2066029479
NM_014009.4(FOXP3):c.1285C>T (p.Pro429Ser)
NM_014009.4(FOXP3):c.129A>G (p.Gly43=) rs1602687640
NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) rs2066088072
NM_014009.4(FOXP3):c.14G>T (p.Arg5Met) rs2147949758
NM_014009.4(FOXP3):c.162C>T (p.Ala54=)
NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.174T>C (p.Ser58=)
NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)
NM_014009.4(FOXP3):c.195A>T (p.Pro65=)
NM_014009.4(FOXP3):c.205C>G (p.Leu69Val)
NM_014009.4(FOXP3):c.210+1G>A rs886041596
NM_014009.4(FOXP3):c.210+1G>T rs886041596
NM_014009.4(FOXP3):c.210+5G>A
NM_014009.4(FOXP3):c.211-17C>A rs2147949241
NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)
NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)
NM_014009.4(FOXP3):c.226C>G (p.Leu76Val)
NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)
NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)
NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)
NM_014009.4(FOXP3):c.288C>A (p.Leu96=) rs942280481
NM_014009.4(FOXP3):c.292G>A (p.Asp98Asn) rs2147949106
NM_014009.4(FOXP3):c.2T>A (p.Met1Lys) rs2147949777
NM_014009.4(FOXP3):c.315+2T>A rs2147949090
NM_014009.4(FOXP3):c.315+9G>A
NM_014009.4(FOXP3):c.316-13A>G rs2066082389
NM_014009.4(FOXP3):c.316-3del rs782086170
NM_014009.4(FOXP3):c.316-4C>T rs977920377
NM_014009.4(FOXP3):c.318C>T (p.Leu106=)
NM_014009.4(FOXP3):c.336C>T (p.His112=) rs143632471
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr) rs1398753395
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) rs1398753395
NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)
NM_014009.4(FOXP3):c.372G>A (p.Glu124=)
NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)
NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)
NM_014009.4(FOXP3):c.408C>T (p.Thr136=) rs782613398
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)
NM_014009.4(FOXP3):c.420C>G (p.Val140=)
NM_014009.4(FOXP3):c.444C>T (p.Gly148=)
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) rs1557116520
NM_014009.4(FOXP3):c.454+4A>G rs2147948858
NM_014009.4(FOXP3):c.455-14G>A rs914653327
NM_014009.4(FOXP3):c.455-19G>A
NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)
NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)
NM_014009.4(FOXP3):c.486C>T (p.Ser162=) rs1557116474
NM_014009.4(FOXP3):c.492G>A (p.Glu164=) rs2147948631
NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp) rs2147948631
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu) rs1279942582
NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) rs1284218417
NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)
NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)
NM_014009.4(FOXP3):c.542+6T>C
NM_014009.4(FOXP3):c.542+8G>A
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile) rs1602686006
NM_014009.4(FOXP3):c.543-16C>T
NM_014009.4(FOXP3):c.543-3dup
NM_014009.4(FOXP3):c.543-4C>T rs782430715
NM_014009.4(FOXP3):c.543-5C>T
NM_014009.4(FOXP3):c.552G>T (p.Ser184=) rs782085584
NM_014009.4(FOXP3):c.59C>T (p.Pro20Leu) rs2066089076
NM_014009.4(FOXP3):c.606C>T (p.Pro202=)
NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) rs2066076242
NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)
NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser) rs374109896
NM_014009.4(FOXP3):c.637G>T (p.Asp213Tyr) rs2147948474
NM_014009.4(FOXP3):c.647+11del rs2066075881
NM_014009.4(FOXP3):c.648-3T>C
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) rs1045776635
NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)
NM_014009.4(FOXP3):c.660G>A (p.Ala220=)
NM_014009.4(FOXP3):c.680A>C (p.Lys227Thr) rs2147947523
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) rs1569529715
NM_014009.4(FOXP3):c.702C>T (p.Leu234=) rs2066065548
NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)
NM_014009.4(FOXP3):c.733C>G (p.Gln245Glu) rs2147947487
NM_014009.4(FOXP3):c.735+13C>T
NM_014009.4(FOXP3):c.735+17G>A
NM_014009.4(FOXP3):c.736-2A>T rs2147947315
NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) rs122467171
NM_014009.4(FOXP3):c.754A>G (p.Lys252Glu) rs2147947305
NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)
NM_014009.4(FOXP3):c.762T>C (p.Ser254=)
NM_014009.4(FOXP3):c.786G>A (p.Gly262=)
NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)
NM_014009.4(FOXP3):c.80G>A (p.Arg27Lys) rs2147949688
NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)
NM_014009.4(FOXP3):c.816G>A (p.Val272=)
NM_014009.4(FOXP3):c.817-10C>G
NM_014009.4(FOXP3):c.817-11C>T
NM_014009.4(FOXP3):c.817-5C>T rs1602682433
NM_014009.4(FOXP3):c.826G>A (p.Asp276Asn)
NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)
NM_014009.4(FOXP3):c.84T>C (p.Ala28=)
NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)
NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)
NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) rs2066051349
NM_014009.4(FOXP3):c.898G>A (p.Glu300Lys) rs2147946014
NM_014009.4(FOXP3):c.912C>T (p.Ser304=) rs2147946006
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly) rs782635427
NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)
NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)
NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)
NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)
NM_014009.4(FOXP3):c.954C>T (p.Asn318=)
NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)
NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu) rs143869281
NM_014009.4(FOXP3):c.967+3A>T rs2066050512
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) rs2066050534
NM_014009.4(FOXP3):c.968-12A>G
NM_014009.4(FOXP3):c.968-13del
NM_014009.4(FOXP3):c.968-17T>A
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014009.4(FOXP3):c.970T>G (p.Phe324Val) rs122467173
NM_014009.4(FOXP3):c.981C>T (p.Asn327=)
NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)
NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr) rs2147945481
NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)

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