ClinVar Miner

List of variants studied for immunodeficiency 32B by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 330
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002163.4(IRF8):c.*354C>T rs10514611 0.22980
NM_002163.4(IRF8):c.432C>T (p.Asp144=) rs16939945 0.02839
NM_002163.4(IRF8):c.672C>T (p.Pro224=) rs57770209 0.01766
NM_002163.4(IRF8):c.387C>T (p.Cys129=) rs16939941 0.01390
NM_002163.4(IRF8):c.1236A>G (p.Ser412=) rs16940012 0.01272
NM_002163.4(IRF8):c.1275C>T (p.Thr425=) rs147057451 0.01269
NM_002163.4(IRF8):c.300A>G (p.Gln100=) rs11545564 0.01115
NM_002163.4(IRF8):c.1194G>A (p.Pro398=) rs2270503 0.00650
NM_002163.4(IRF8):c.894C>T (p.Phe298=) rs61995933 0.00547
NM_002163.4(IRF8):c.813C>T (p.Phe271=) rs147080359 0.00373
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711 0.00301
NM_002163.4(IRF8):c.724T>C (p.Tyr242His) rs142267779 0.00201
NM_002163.4(IRF8):c.370G>A (p.Val124Met) rs138854374 0.00185
NM_002163.4(IRF8):c.602-19G>A rs185056029 0.00107
NM_002163.4(IRF8):c.537G>A (p.Ala179=) rs146360039 0.00060
NM_002163.4(IRF8):c.859G>A (p.Val287Met) rs28368114 0.00060
NM_002163.4(IRF8):c.287C>T (p.Thr96Met) rs145048966 0.00056
NM_002163.4(IRF8):c.415G>A (p.Gly139Ser) rs138032891 0.00044
NM_002163.4(IRF8):c.825G>A (p.Glu275=) rs138551718 0.00043
NM_002163.4(IRF8):c.1068T>C (p.Asp356=) rs748930444 0.00041
NM_002163.4(IRF8):c.1278C>T (p.Val426=) rs146135491 0.00034
NM_002163.4(IRF8):c.982T>G (p.Phe328Val) rs202046728 0.00031
NM_002163.4(IRF8):c.1122C>T (p.Val374=) rs544583597 0.00028
NM_002163.4(IRF8):c.1104+7dup rs749942363 0.00019
NM_002163.4(IRF8):c.1104+8T>G rs749015309 0.00019
NM_002163.4(IRF8):c.1161C>T (p.Ala387=) rs183121597 0.00019
NM_002163.4(IRF8):c.1030G>A (p.Gly344Ser) rs36085113 0.00017
NM_002163.4(IRF8):c.1104G>A (p.Gln368=) rs377181003 0.00017
NM_002163.4(IRF8):c.6T>C (p.Cys2=) rs374563565 0.00017
NM_002163.4(IRF8):c.1065G>A (p.Pro355=) rs200724492 0.00016
NM_002163.4(IRF8):c.126C>T (p.His42=) rs150193781 0.00015
NM_002163.4(IRF8):c.104T>C (p.Met35Thr) rs140921131 0.00012
NM_002163.4(IRF8):c.312C>T (p.Ser104=) rs541779534 0.00012
NM_002163.4(IRF8):c.864C>T (p.Phe288=) rs372510203 0.00012
NM_002163.4(IRF8):c.261T>C (p.Asn87=) rs752043668 0.00009
NM_002163.4(IRF8):c.858C>T (p.Gly286=) rs201720336 0.00009
NM_002163.4(IRF8):c.671C>T (p.Pro224Leu) rs774835569 0.00008
NM_002163.4(IRF8):c.969C>T (p.Asp323=) rs780579711 0.00008
NM_002163.4(IRF8):c.1077C>T (p.Pro359=) rs148203070 0.00007
NM_002163.4(IRF8):c.590C>T (p.Ala197Val) rs768395792 0.00007
NM_002163.4(IRF8):c.988+10G>A rs371410129 0.00007
NM_002163.4(IRF8):c.1131G>A (p.Leu377=) rs141548724 0.00006
NM_002163.4(IRF8):c.1158A>T (p.Gly386=) rs761136833 0.00006
NM_002163.4(IRF8):c.419G>A (p.Arg140His) rs372863612 0.00006
NM_002163.4(IRF8):c.508C>G (p.Arg170Gly) rs769456462 0.00006
NM_002163.4(IRF8):c.827G>A (p.Arg276His) rs746036448 0.00006
NM_002163.4(IRF8):c.358+18G>A rs200617822 0.00005
NM_002163.4(IRF8):c.602-6C>A rs200999470 0.00005
NM_002163.4(IRF8):c.711C>T (p.Pro237=) rs200917903 0.00005
NM_002163.4(IRF8):c.1029C>T (p.Asp343=) rs137979223 0.00004
NM_002163.4(IRF8):c.1124G>A (p.Arg375Gln) rs372592381 0.00004
NM_002163.4(IRF8):c.497C>T (p.Pro166Leu) rs149439061 0.00004
NM_002163.4(IRF8):c.673G>A (p.Glu225Lys) rs760910506 0.00004
NM_002163.4(IRF8):c.851G>A (p.Arg284Gln) rs767169156 0.00004
NM_002163.4(IRF8):c.1162G>A (p.Gly388Ser) rs758262133 0.00003
NM_002163.4(IRF8):c.1182C>T (p.Pro394=) rs777276939 0.00003
NM_002163.4(IRF8):c.35A>T (p.Gln12Leu) rs1388876338 0.00003
NM_002163.4(IRF8):c.362A>T (p.Lys121Ile) rs145943537 0.00003
NM_002163.4(IRF8):c.553+10G>A rs749641044 0.00003
NM_002163.4(IRF8):c.601+4C>T rs201757188 0.00003
NM_002163.4(IRF8):c.800C>T (p.Thr267Met) rs774034337 0.00003
NM_002163.4(IRF8):c.802C>T (p.Arg268Trp) rs754529909 0.00003
NM_002163.4(IRF8):c.1004A>G (p.Tyr335Cys) rs369499000 0.00002
NM_002163.4(IRF8):c.1081C>T (p.Arg361Cys) rs771773479 0.00002
NM_002163.4(IRF8):c.1105-6A>G rs778862798 0.00002
NM_002163.4(IRF8):c.369C>T (p.Gly123=) rs777835591 0.00002
NM_002163.4(IRF8):c.556G>A (p.Val186Met) rs767204633 0.00002
NM_002163.4(IRF8):c.752G>A (p.Arg251His) rs1242802767 0.00002
NM_002163.4(IRF8):c.828C>T (p.Arg276=) rs770113596 0.00002
NM_002163.4(IRF8):c.865G>A (p.Val289Ile) rs202107230 0.00002
NM_002163.4(IRF8):c.988+9C>T rs773129098 0.00002
NM_002163.4(IRF8):c.1008C>T (p.Asn336=) rs755364386 0.00001
NM_002163.4(IRF8):c.1098C>T (p.Leu366=) rs753030994 0.00001
NM_002163.4(IRF8):c.1104+10G>A rs1467039914 0.00001
NM_002163.4(IRF8):c.1119T>C (p.Tyr373=) rs775854818 0.00001
NM_002163.4(IRF8):c.1123C>T (p.Arg375Trp) rs774733201 0.00001
NM_002163.4(IRF8):c.1159G>T (p.Ala387Ser) rs754985499 0.00001
NM_002163.4(IRF8):c.1184A>C (p.Glu395Ala) rs1567479042 0.00001
NM_002163.4(IRF8):c.1189C>A (p.Pro397Thr) rs756665891 0.00001
NM_002163.4(IRF8):c.1190C>T (p.Pro397Leu) rs1025926878 0.00001
NM_002163.4(IRF8):c.1210C>T (p.Arg404Trp) rs748501841 0.00001
NM_002163.4(IRF8):c.1244G>T (p.Arg415Ile) rs901780905 0.00001
NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?) rs1567479117 0.00001
NM_002163.4(IRF8):c.19G>A (p.Gly7Ser) rs201464467 0.00001
NM_002163.4(IRF8):c.22C>T (p.Arg8Trp) rs1293439667 0.00001
NM_002163.4(IRF8):c.359-6C>T rs765300268 0.00001
NM_002163.4(IRF8):c.359-7T>A rs978350488 0.00001
NM_002163.4(IRF8):c.433G>A (p.Glu145Lys) rs755978434 0.00001
NM_002163.4(IRF8):c.483G>A (p.Arg161=) rs749474801 0.00001
NM_002163.4(IRF8):c.536C>T (p.Ala179Val) rs899829306 0.00001
NM_002163.4(IRF8):c.554-16T>G rs775380262 0.00001
NM_002163.4(IRF8):c.561G>A (p.Pro187=) rs540457833 0.00001
NM_002163.4(IRF8):c.570G>A (p.Thr190=) rs757320154 0.00001
NM_002163.4(IRF8):c.585C>T (p.Tyr195=) rs189187823 0.00001
NM_002163.4(IRF8):c.601+5G>C rs772871541 0.00001
NM_002163.4(IRF8):c.601+6G>C rs369859766 0.00001
NM_002163.4(IRF8):c.621C>G (p.Ile207Met) rs1427371180 0.00001
NM_002163.4(IRF8):c.666C>T (p.Thr222=) rs1597256654 0.00001
NM_002163.4(IRF8):c.682C>T (p.Arg228Cys) rs148746145 0.00001
NM_002163.4(IRF8):c.68A>G (p.Tyr23Cys) rs370086181 0.00001
NM_002163.4(IRF8):c.732C>T (p.Pro244=) rs28368113 0.00001
NM_002163.4(IRF8):c.738C>T (p.Gly246=) rs372079655 0.00001
NM_002163.4(IRF8):c.751C>T (p.Arg251Cys) rs773747033 0.00001
NM_002163.4(IRF8):c.759G>A (p.Pro253=) rs747312747 0.00001
NM_002163.4(IRF8):c.765C>T (p.Ala255=) rs759805702 0.00001
NM_002163.4(IRF8):c.769G>A (p.Ala257Thr) rs751576714 0.00001
NM_002163.4(IRF8):c.780C>T (p.Ser260=) rs376692640 0.00001
NM_002163.4(IRF8):c.801G>A (p.Thr267=) rs748765030 0.00001
NM_002163.4(IRF8):c.848G>C (p.Ser283Thr) rs1310418248 0.00001
NM_002163.4(IRF8):c.923G>A (p.Gly308Asp) rs774512853 0.00001
NM_002163.4(IRF8):c.927G>A (p.Arg309=) rs374144564 0.00001
NC_000016.9:g.(?_85936602)_(85955242_?)dup
NC_000016.9:g.(?_85936622)_(85954888_?)del
NC_000016.9:g.(?_85936622)_(86602447_?)dup
NM_002163.4(IRF8):c.1018C>T (p.Arg340Trp) rs765523642
NM_002163.4(IRF8):c.101G>A (p.Ser34Asn) rs1904879589
NM_002163.4(IRF8):c.1020G>T (p.Arg340=)
NM_002163.4(IRF8):c.1028A>T (p.Asp343Val)
NM_002163.4(IRF8):c.102C>G (p.Ser34Arg)
NM_002163.4(IRF8):c.1030G>T (p.Gly344Cys) rs36085113
NM_002163.4(IRF8):c.1033A>G (p.Arg345Gly)
NM_002163.4(IRF8):c.1037T>C (p.Val346Ala)
NM_002163.4(IRF8):c.1065G>C (p.Pro355=)
NM_002163.4(IRF8):c.1068T>A (p.Asp356Glu)
NM_002163.4(IRF8):c.1074C>G (p.Ala358=)
NM_002163.4(IRF8):c.1081C>G (p.Arg361Gly) rs771773479
NM_002163.4(IRF8):c.1082G>A (p.Arg361His) rs1905497880
NM_002163.4(IRF8):c.1082G>C (p.Arg361Pro)
NM_002163.4(IRF8):c.1086C>A (p.Ser362=)
NM_002163.4(IRF8):c.1093A>G (p.Ile365Val) rs1597257806
NM_002163.4(IRF8):c.1099G>C (p.Val367Leu) rs1200900321
NM_002163.4(IRF8):c.1103A>G (p.Gln368Arg)
NM_002163.4(IRF8):c.1104+12C>T
NM_002163.4(IRF8):c.1104+27_1104+40del rs10604224
NM_002163.4(IRF8):c.1104+29_1104+40del rs10604224
NM_002163.4(IRF8):c.1104+39_1104+40del rs10604224
NM_002163.4(IRF8):c.1104+40del rs10604224
NM_002163.4(IRF8):c.1105-12C>T
NM_002163.4(IRF8):c.1105-16T>C
NM_002163.4(IRF8):c.1105-4C>G
NM_002163.4(IRF8):c.1105-6A>T
NM_002163.4(IRF8):c.1116G>A (p.Leu372=)
NM_002163.4(IRF8):c.1116G>C (p.Leu372=)
NM_002163.4(IRF8):c.1118A>G (p.Tyr373Cys)
NM_002163.4(IRF8):c.1135G>C (p.Glu379Gln) rs2143060486
NM_002163.4(IRF8):c.1142C>G (p.Ala381Gly)
NM_002163.4(IRF8):c.1151G>C (p.Ser384Thr)
NM_002163.4(IRF8):c.1160C>G (p.Ala387Gly)
NM_002163.4(IRF8):c.1169_1170del (p.Val390fs) rs1555510153
NM_002163.4(IRF8):c.1173G>A (p.Met391Ile)
NM_002163.4(IRF8):c.1176G>T (p.Gln392His)
NM_002163.4(IRF8):c.1180_1190del (p.Pro394fs) rs1905549108
NM_002163.4(IRF8):c.1183G>A (p.Glu395Lys)
NM_002163.4(IRF8):c.1191G>A (p.Pro397=)
NM_002163.4(IRF8):c.1193C>T (p.Pro398Leu)
NM_002163.4(IRF8):c.1193dup (p.Pro399fs)
NM_002163.4(IRF8):c.1200C>T (p.Asp400=)
NM_002163.4(IRF8):c.1213A>C (p.Met405Leu)
NM_002163.4(IRF8):c.1215G>A (p.Met405Ile)
NM_002163.4(IRF8):c.1227T>C (p.Ile409=)
NM_002163.4(IRF8):c.1235C>T (p.Ser412Leu)
NM_002163.4(IRF8):c.1261A>G (p.Asn421Asp) rs2143061366
NM_002163.4(IRF8):c.1266A>G (p.Gln422=) rs1905554574
NM_002163.4(IRF8):c.1272C>T (p.Ile424=)
NM_002163.4(IRF8):c.1274C>T (p.Thr425Ile)
NM_002163.4(IRF8):c.1275C>G (p.Thr425=) rs147057451
NM_002163.4(IRF8):c.130G>A (p.Gly44Ser)
NM_002163.4(IRF8):c.16GGT[1] (p.Gly7del)
NM_002163.4(IRF8):c.174+18C>T
NM_002163.4(IRF8):c.174+4A>G rs1904882473
NM_002163.4(IRF8):c.174G>A (p.Lys58=) rs1904882373
NM_002163.4(IRF8):c.175-14G>A
NM_002163.4(IRF8):c.175-3C>T
NM_002163.4(IRF8):c.175-8T>C
NM_002163.4(IRF8):c.184G>A (p.Val62Ile) rs1597251890
NM_002163.4(IRF8):c.218C>T (p.Ala73Val) rs771805067
NM_002163.4(IRF8):c.227C>T (p.Ala76Val) rs2152100693
NM_002163.4(IRF8):c.239C>G (p.Thr80Arg) rs1905075639
NM_002163.4(IRF8):c.250T>C (p.Cys84Arg)
NM_002163.4(IRF8):c.25C>T (p.Arg9Trp) rs759579543
NM_002163.4(IRF8):c.288G>A (p.Thr96=)
NM_002163.4(IRF8):c.289G>A (p.Asp97Asn) rs34712374
NM_002163.4(IRF8):c.293G>A (p.Arg98Gln)
NM_002163.4(IRF8):c.315G>A (p.Glu105=)
NM_002163.4(IRF8):c.332G>A (p.Arg111Gln) rs371942842
NM_002163.4(IRF8):c.343G>C (p.Glu115Gln)
NM_002163.4(IRF8):c.358+16G>C
NM_002163.4(IRF8):c.358+4A>C
NM_002163.4(IRF8):c.358+4A>T
NM_002163.4(IRF8):c.358+7A>T
NM_002163.4(IRF8):c.358+9C>T
NM_002163.4(IRF8):c.359-16G>A
NM_002163.4(IRF8):c.359-4G>A rs752738851
NM_002163.4(IRF8):c.359-4G>C rs752738851
NM_002163.4(IRF8):c.36G>A (p.Gln12=)
NM_002163.4(IRF8):c.376A>G (p.Thr126Ala)
NM_002163.4(IRF8):c.377C>G (p.Thr126Ser)
NM_002163.4(IRF8):c.380C>T (p.Ala127Val) rs2152101510
NM_002163.4(IRF8):c.381T>A (p.Ala127=) rs780856170
NM_002163.4(IRF8):c.381T>G (p.Ala127=)
NM_002163.4(IRF8):c.388G>A (p.Val130Met)
NM_002163.4(IRF8):c.388_389delinsAA (p.Val130Lys) rs2152101514
NM_002163.4(IRF8):c.398T>C (p.Val133Ala) rs1905145046
NM_002163.4(IRF8):c.406A>G (p.Met136Val) rs1555509293
NM_002163.4(IRF8):c.413G>A (p.Cys138Tyr) rs2152101529
NM_002163.4(IRF8):c.414C>G (p.Cys138Trp) rs8052064
NM_002163.4(IRF8):c.414C>T (p.Cys138=) rs8052064
NM_002163.4(IRF8):c.417T>A (p.Gly139=)
NM_002163.4(IRF8):c.417T>G (p.Gly139=) rs369033423
NM_002163.4(IRF8):c.418C>T (p.Arg140Cys) rs752999095
NM_002163.4(IRF8):c.419G>T (p.Arg140Leu)
NM_002163.4(IRF8):c.429C>T (p.Ile143=) rs757276103
NM_002163.4(IRF8):c.435G>A (p.Glu145=)
NM_002163.4(IRF8):c.448-12C>G
NM_002163.4(IRF8):c.448-3C>T
NM_002163.4(IRF8):c.459C>T (p.Asp153=)
NM_002163.4(IRF8):c.45C>G (p.Ile15Met) rs764958679
NM_002163.4(IRF8):c.45C>T (p.Ile15=) rs764958679
NM_002163.4(IRF8):c.461A>T (p.Asp154Val)
NM_002163.4(IRF8):c.46G>A (p.Glu16Lys)
NM_002163.4(IRF8):c.477C>T (p.Ile159=) rs2152101951
NM_002163.4(IRF8):c.485G>C (p.Ser162Thr) rs1363457499
NM_002163.4(IRF8):c.486C>A (p.Ser162Arg) rs1212356919
NM_002163.4(IRF8):c.495G>A (p.Pro165=) rs532341216
NM_002163.4(IRF8):c.495G>T (p.Pro165=) rs532341216
NM_002163.4(IRF8):c.498G>A (p.Pro166=)
NM_002163.4(IRF8):c.498G>T (p.Pro166=)
NM_002163.4(IRF8):c.510G>C (p.Arg170=)
NM_002163.4(IRF8):c.519C>G (p.Leu173=)
NM_002163.4(IRF8):c.528C>A (p.Asp176Glu) rs2152101975
NM_002163.4(IRF8):c.530G>C (p.Trp177Ser) rs1392035627
NM_002163.4(IRF8):c.537G>T (p.Ala179=)
NM_002163.4(IRF8):c.547A>G (p.Ser183Gly) rs1905198107
NM_002163.4(IRF8):c.550A>G (p.Thr184Ala)
NM_002163.4(IRF8):c.552A>G (p.Thr184=)
NM_002163.4(IRF8):c.553+16C>G
NM_002163.4(IRF8):c.553+16_553+26del rs773675295
NM_002163.4(IRF8):c.553+18A>G
NM_002163.4(IRF8):c.554-14T>C
NM_002163.4(IRF8):c.554-5T>G rs1597254533
NM_002163.4(IRF8):c.554-6C>T
NM_002163.4(IRF8):c.554-9C>T
NM_002163.4(IRF8):c.555C>T (p.Gly185=)
NM_002163.4(IRF8):c.560C>T (p.Pro187Leu)
NM_002163.4(IRF8):c.564G>A (p.Leu188=)
NM_002163.4(IRF8):c.568A>C (p.Thr190Pro) rs1905237862
NM_002163.4(IRF8):c.569C>A (p.Thr190Lys)
NM_002163.4(IRF8):c.569C>G (p.Thr190Arg)
NM_002163.4(IRF8):c.569C>T (p.Thr190Met) rs140514602
NM_002163.4(IRF8):c.56A>G (p.Asp19Gly)
NM_002163.4(IRF8):c.570G>C (p.Thr190=)
NM_002163.4(IRF8):c.573G>A (p.Gly191=) rs17444416
NM_002163.4(IRF8):c.576C>T (p.Tyr192=)
NM_002163.4(IRF8):c.582C>T (p.Thr194=)
NM_002163.4(IRF8):c.588C>T (p.Asp196=)
NM_002163.4(IRF8):c.58A>G (p.Ser20Gly) rs1597249015
NM_002163.4(IRF8):c.597_600del (p.His199fs) rs1905239908
NM_002163.4(IRF8):c.59G>A (p.Ser20Asn)
NM_002163.4(IRF8):c.601+11G>C
NM_002163.4(IRF8):c.601+14C>G
NM_002163.4(IRF8):c.601+14C>T rs373421618
NM_002163.4(IRF8):c.601+15G>A
NM_002163.4(IRF8):c.601+1G>A rs367667456
NM_002163.4(IRF8):c.601+5G>A
NM_002163.4(IRF8):c.602-11C>T
NM_002163.4(IRF8):c.602-13C>G
NM_002163.4(IRF8):c.602-20C>T
NM_002163.4(IRF8):c.603A>G (p.Ala201=)
NM_002163.4(IRF8):c.604T>G (p.Phe202Val)
NM_002163.4(IRF8):c.623G>C (p.Ser208Thr)
NM_002163.4(IRF8):c.627C>T (p.Phe209=)
NM_002163.4(IRF8):c.634G>T (p.Gly212Trp)
NM_002163.4(IRF8):c.636G>T (p.Gly212=)
NM_002163.4(IRF8):c.642G>A (p.Lys214=)
NM_002163.4(IRF8):c.653A>G (p.Gln218Arg)
NM_002163.4(IRF8):c.660C>T (p.Thr220=) rs745351465
NM_002163.4(IRF8):c.668G>T (p.Cys223Phe)
NM_002163.4(IRF8):c.672C>G (p.Pro224=) rs57770209
NM_002163.4(IRF8):c.673G>C (p.Glu225Gln) rs760910506
NM_002163.4(IRF8):c.682C>A (p.Arg228Ser)
NM_002163.4(IRF8):c.699G>T (p.Gln233His)
NM_002163.4(IRF8):c.709C>A (p.Pro237Thr)
NM_002163.4(IRF8):c.70C>G (p.Pro24Ala) rs1904878101
NM_002163.4(IRF8):c.712G>A (p.Gly238Ser)
NM_002163.4(IRF8):c.712G>C (p.Gly238Arg) rs763945332
NM_002163.4(IRF8):c.713G>A (p.Gly238Asp) rs1461824464
NM_002163.4(IRF8):c.716C>G (p.Thr239Ser)
NM_002163.4(IRF8):c.716C>T (p.Thr239Ile)
NM_002163.4(IRF8):c.719A>T (p.Lys240Met) rs1905404612
NM_002163.4(IRF8):c.721C>T (p.Leu241=) rs1480512430
NM_002163.4(IRF8):c.723G>C (p.Leu241=) rs2143045302
NM_002163.4(IRF8):c.729G>A (p.Gly243=)
NM_002163.4(IRF8):c.731C>T (p.Pro244Leu)
NM_002163.4(IRF8):c.748G>C (p.Val250Leu)
NM_002163.4(IRF8):c.75A>G (p.Gly25=) rs988591939
NM_002163.4(IRF8):c.762G>A (p.Pro254=)
NM_002163.4(IRF8):c.780C>A (p.Ser260Arg)
NM_002163.4(IRF8):c.808C>T (p.Leu270=)
NM_002163.4(IRF8):c.810G>T (p.Leu270=) rs1597256790
NM_002163.4(IRF8):c.819C>T (p.His273=)
NM_002163.4(IRF8):c.81T>A (p.Ile27=) rs749700728
NM_002163.4(IRF8):c.81T>C (p.Ile27=)
NM_002163.4(IRF8):c.835C>A (p.Leu279Met)
NM_002163.4(IRF8):c.835C>T (p.Leu279=)
NM_002163.4(IRF8):c.850C>T (p.Arg284Trp) rs370022572
NM_002163.4(IRF8):c.853C>G (p.Gln285Glu)
NM_002163.4(IRF8):c.870G>A (p.Lys290=)
NM_002163.4(IRF8):c.873G>T (p.Arg291=)
NM_002163.4(IRF8):c.87G>A (p.Glu29=)
NM_002163.4(IRF8):c.888C>T (p.Arg296=)
NM_002163.4(IRF8):c.893T>C (p.Phe298Ser)
NM_002163.4(IRF8):c.900C>T (p.Ser300=)
NM_002163.4(IRF8):c.901G>A (p.Gly301Ser) rs945535357
NM_002163.4(IRF8):c.903C>A (p.Gly301=)
NM_002163.4(IRF8):c.906C>T (p.Asn302=)
NM_002163.4(IRF8):c.907G>A (p.Ala303Thr)
NM_002163.4(IRF8):c.909C>T (p.Ala303=)
NM_002163.4(IRF8):c.910G>A (p.Val304Met)
NM_002163.4(IRF8):c.925A>C (p.Arg309=) rs2143047160
NM_002163.4(IRF8):c.963C>G (p.Val321=)
NM_002163.4(IRF8):c.966C>G (p.Phe322Leu)
NM_002163.4(IRF8):c.966C>T (p.Phe322=)
NM_002163.4(IRF8):c.967G>A (p.Asp323Asn)
NM_002163.4(IRF8):c.967G>C (p.Asp323His)
NM_002163.4(IRF8):c.972C>T (p.Thr324=)
NM_002163.4(IRF8):c.988+12C>A
NM_002163.4(IRF8):c.988+12C>T
NM_002163.4(IRF8):c.988+13G>A
NM_002163.4(IRF8):c.989-8C>T
NM_002163.4(IRF8):c.98A>G (p.Lys33Arg)

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