ClinVar Miner

List of variants in gene IGHMBP2 reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709 0.00003
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter) rs199839840 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
NC_000011.9:g.(?_68682281)_(68682501_?)del
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1126G>A (p.Glu376Lys) rs1178427226
NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
NM_002180.3(IGHMBP2):c.1235+1G>T
NM_002180.3(IGHMBP2):c.1235+894C>A rs1202430946
NM_002180.3(IGHMBP2):c.1236-1G>T rs1124336
NM_002180.3(IGHMBP2):c.1241_1254dup (p.Ser419fs)
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro) rs571142182
NM_002180.3(IGHMBP2):c.1418+1G>C rs1160978570
NM_002180.3(IGHMBP2):c.1463T>C (p.Leu488Pro) rs2154008646
NM_002180.3(IGHMBP2):c.1493T>C (p.Leu498Pro) rs2154008654
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.3(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His) rs1240319744
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.182G>A (p.Gly61Glu)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.256+5G>C
NM_002180.3(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.3(IGHMBP2):c.34_35insCC (p.Lys12fs) rs1858067021
NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter) rs972425138
NM_002180.3(IGHMBP2):c.449+2T>A
NM_002180.3(IGHMBP2):c.449+2del
NM_002180.3(IGHMBP2):c.638A>C (p.His213Pro)
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.688C>G (p.Gln230Glu) rs1555243325
NM_002180.3(IGHMBP2):c.729del (p.Ser244fs) rs1594427410
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.86+1G>T
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.905_912+85del
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs) rs746581714

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