ClinVar Miner

List of variants in gene IRF8 reported as likely benign for immunodeficiency 32B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.537G>A (p.Ala179=) rs146360039 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.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.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.261T>C (p.Asn87=) rs752043668 0.00009
NM_002163.4(IRF8):c.858C>T (p.Gly286=) rs201720336 0.00009
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.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.711C>T (p.Pro237=) rs200917903 0.00005
NM_002163.4(IRF8):c.1029C>T (p.Asp343=) rs137979223 0.00004
NM_002163.4(IRF8):c.1182C>T (p.Pro394=) rs777276939 0.00003
NM_002163.4(IRF8):c.553+10G>A rs749641044 0.00003
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.828C>T (p.Arg276=) rs770113596 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.359-6C>T rs765300268 0.00001
NM_002163.4(IRF8):c.359-7T>A rs978350488 0.00001
NM_002163.4(IRF8):c.483G>A (p.Arg161=) rs749474801 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.666C>T (p.Thr222=) rs1597256654 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.759G>A (p.Pro253=) rs747312747 0.00001
NM_002163.4(IRF8):c.765C>T (p.Ala255=) rs759805702 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.927G>A (p.Arg309=) rs374144564 0.00001
NM_002163.4(IRF8):c.1020G>T (p.Arg340=)
NM_002163.4(IRF8):c.1065G>C (p.Pro355=)
NM_002163.4(IRF8):c.1074C>G (p.Ala358=)
NM_002163.4(IRF8):c.1086C>A (p.Ser362=)
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.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.1191G>A (p.Pro397=)
NM_002163.4(IRF8):c.1200C>T (p.Asp400=)
NM_002163.4(IRF8):c.1227T>C (p.Ile409=)
NM_002163.4(IRF8):c.1266A>G (p.Gln422=) rs1905554574
NM_002163.4(IRF8):c.1272C>T (p.Ile424=)
NM_002163.4(IRF8):c.1275C>G (p.Thr425=) rs147057451
NM_002163.4(IRF8):c.174+18C>T
NM_002163.4(IRF8):c.288G>A (p.Thr96=)
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.381T>G (p.Ala127=)
NM_002163.4(IRF8):c.417T>A (p.Gly139=)
NM_002163.4(IRF8):c.417T>G (p.Gly139=) rs369033423
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.459C>T (p.Asp153=)
NM_002163.4(IRF8):c.45C>T (p.Ile15=) rs764958679
NM_002163.4(IRF8):c.477C>T (p.Ile159=) rs2152101951
NM_002163.4(IRF8):c.495G>A (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.537G>T (p.Ala179=)
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.554-6C>T
NM_002163.4(IRF8):c.554-9C>T
NM_002163.4(IRF8):c.555C>T (p.Gly185=)
NM_002163.4(IRF8):c.564G>A (p.Leu188=)
NM_002163.4(IRF8):c.570G>C (p.Thr190=)
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.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.603A>G (p.Ala201=)
NM_002163.4(IRF8):c.627C>T (p.Phe209=)
NM_002163.4(IRF8):c.636G>T (p.Gly212=)
NM_002163.4(IRF8):c.642G>A (p.Lys214=)
NM_002163.4(IRF8):c.660C>T (p.Thr220=) rs745351465
NM_002163.4(IRF8):c.672C>G (p.Pro224=) rs57770209
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.75A>G (p.Gly25=) rs988591939
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>T (p.Leu279=)
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.900C>T (p.Ser300=)
NM_002163.4(IRF8):c.903C>A (p.Gly301=)
NM_002163.4(IRF8):c.906C>T (p.Asn302=)
NM_002163.4(IRF8):c.909C>T (p.Ala303=)
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>T (p.Phe322=)
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.