ClinVar Miner

List of variants reported as likely benign for immunodeficiency 32B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 150
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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.312C>T (p.Ser104=) rs541779534 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.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.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.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.175-14G>A
NM_002163.4(IRF8):c.175-8T>C
NM_002163.4(IRF8):c.288G>A (p.Thr96=)
NM_002163.4(IRF8):c.315G>A (p.Glu105=)
NM_002163.4(IRF8):c.358+16G>C
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.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.602-11C>T
NM_002163.4(IRF8):c.602-20C>T
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

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