ClinVar Miner

List of variants reported as uncertain significance 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: 163
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HGVS dbSNP gnomAD frequency
NM_002163.4(IRF8):c.859G>A (p.Val287Met) rs28368114 0.00060
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.104T>C (p.Met35Thr) rs140921131 0.00012
NM_002163.4(IRF8):c.671C>T (p.Pro224Leu) rs774835569 0.00008
NM_002163.4(IRF8):c.590C>T (p.Ala197Val) rs768395792 0.00007
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.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.35A>T (p.Gln12Leu) rs1388876338 0.00003
NM_002163.4(IRF8):c.362A>T (p.Lys121Ile) rs145943537 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.556G>A (p.Val186Met) rs767204633 0.00002
NM_002163.4(IRF8):c.752G>A (p.Arg251His) rs1242802767 0.00002
NM_002163.4(IRF8):c.865G>A (p.Val289Ile) rs202107230 0.00002
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.433G>A (p.Glu145Lys) rs755978434 0.00001
NM_002163.4(IRF8):c.536C>T (p.Ala179Val) rs899829306 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.682C>T (p.Arg228Cys) rs148746145 0.00001
NM_002163.4(IRF8):c.68A>G (p.Tyr23Cys) rs370086181 0.00001
NM_002163.4(IRF8):c.751C>T (p.Arg251Cys) rs773747033 0.00001
NM_002163.4(IRF8):c.769G>A (p.Ala257Thr) rs751576714 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
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.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.1068T>A (p.Asp356Glu)
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.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.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.1193C>T (p.Pro398Leu)
NM_002163.4(IRF8):c.1193dup (p.Pro399fs)
NM_002163.4(IRF8):c.1213A>C (p.Met405Leu)
NM_002163.4(IRF8):c.1215G>A (p.Met405Ile)
NM_002163.4(IRF8):c.1235C>T (p.Ser412Leu)
NM_002163.4(IRF8):c.1261A>G (p.Asn421Asp) rs2143061366
NM_002163.4(IRF8):c.1274C>T (p.Thr425Ile)
NM_002163.4(IRF8):c.130G>A (p.Gly44Ser)
NM_002163.4(IRF8):c.16GGT[1] (p.Gly7del)
NM_002163.4(IRF8):c.174+4A>G rs1904882473
NM_002163.4(IRF8):c.174G>A (p.Lys58=) rs1904882373
NM_002163.4(IRF8):c.175-3C>T
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.289G>A (p.Asp97Asn) rs34712374
NM_002163.4(IRF8):c.293G>A (p.Arg98Gln)
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+4A>C
NM_002163.4(IRF8):c.358+4A>T
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.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.418C>T (p.Arg140Cys) rs752999095
NM_002163.4(IRF8):c.419G>T (p.Arg140Leu)
NM_002163.4(IRF8):c.448-3C>T
NM_002163.4(IRF8):c.45C>G (p.Ile15Met) rs764958679
NM_002163.4(IRF8):c.461A>T (p.Asp154Val)
NM_002163.4(IRF8):c.46G>A (p.Glu16Lys)
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.528C>A (p.Asp176Glu) rs2152101975
NM_002163.4(IRF8):c.530G>C (p.Trp177Ser) rs1392035627
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.554-5T>G rs1597254533
NM_002163.4(IRF8):c.560C>T (p.Pro187Leu)
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.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+1G>A rs367667456
NM_002163.4(IRF8):c.601+5G>A
NM_002163.4(IRF8):c.602-13C>G
NM_002163.4(IRF8):c.604T>G (p.Phe202Val)
NM_002163.4(IRF8):c.623G>C (p.Ser208Thr)
NM_002163.4(IRF8):c.634G>T (p.Gly212Trp)
NM_002163.4(IRF8):c.653A>G (p.Gln218Arg)
NM_002163.4(IRF8):c.668G>T (p.Cys223Phe)
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.731C>T (p.Pro244Leu)
NM_002163.4(IRF8):c.748G>C (p.Val250Leu)
NM_002163.4(IRF8):c.762G>A (p.Pro254=)
NM_002163.4(IRF8):c.780C>A (p.Ser260Arg)
NM_002163.4(IRF8):c.835C>A (p.Leu279Met)
NM_002163.4(IRF8):c.850C>T (p.Arg284Trp) rs370022572
NM_002163.4(IRF8):c.853C>G (p.Gln285Glu)
NM_002163.4(IRF8):c.893T>C (p.Phe298Ser)
NM_002163.4(IRF8):c.901G>A (p.Gly301Ser) rs945535357
NM_002163.4(IRF8):c.907G>A (p.Ala303Thr)
NM_002163.4(IRF8):c.910G>A (p.Val304Met)
NM_002163.4(IRF8):c.966C>G (p.Phe322Leu)
NM_002163.4(IRF8):c.967G>A (p.Asp323Asn)
NM_002163.4(IRF8):c.967G>C (p.Asp323His)
NM_002163.4(IRF8):c.98A>G (p.Lys33Arg)

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