ClinVar Miner

List of variants in gene STAT2 reported as pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005419.4(STAT2):c.1852C>T (p.Gln618Ter) rs1391401672 0.00001
NM_005419.4(STAT2):c.667C>T (p.Arg223Ter) rs1216776022 0.00001
NM_005419.4(STAT2):c.1180C>T (p.Gln394Ter)
NM_005419.4(STAT2):c.1209+1del rs1592475699
NM_005419.4(STAT2):c.124C>T (p.Gln42Ter) rs1258502384
NM_005419.4(STAT2):c.1467dup (p.Lys490fs) rs763294380
NM_005419.4(STAT2):c.1528C>T (p.Arg510Ter) rs2136053029
NM_005419.4(STAT2):c.1576G>A (p.Gly526Arg)
NM_005419.4(STAT2):c.1580del (p.Gln527fs) rs2136052256
NM_005419.4(STAT2):c.1630C>T (p.Arg544Ter)
NM_005419.4(STAT2):c.1658del (p.Phe553fs)
NM_005419.4(STAT2):c.1728_1734dup (p.Gly579fs)
NM_005419.4(STAT2):c.1791del (p.Leu599fs) rs1877554115
NM_005419.4(STAT2):c.1826del (p.Gly609fs) rs2136044173
NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter) rs781522558
NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter) rs1565648608
NM_005419.4(STAT2):c.2197del (p.Leu733fs)
NM_005419.4(STAT2):c.2266del (p.Glu756fs)
NM_005419.4(STAT2):c.381+5G>C rs281874770
NM_005419.4(STAT2):c.403G>T (p.Glu135Ter)
NM_005419.4(STAT2):c.676dup (p.Thr226fs) rs2136083409
NM_005419.4(STAT2):c.778del (p.Thr260fs)
NM_005419.4(STAT2):c.820C>T (p.Gln274Ter) rs1878457865

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