ClinVar Miner

List of variants in gene UNG reported as pathogenic for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_080911.3(UNG):c.685C>T (p.Arg229Ter) rs772214871 0.00002
NM_080911.3(UNG):c.162del (p.Gln55fs)
NM_080911.3(UNG):c.250dup (p.Arg84fs)
NM_080911.3(UNG):c.294del (p.Ser97_Trp98insTer) rs2135882474
NM_080911.3(UNG):c.366_369del (p.Arg122fs) rs757311287
NM_080911.3(UNG):c.392del (p.Pro131fs)
NM_080911.3(UNG):c.39del (p.Ser14fs)
NM_080911.3(UNG):c.428_429del (p.Ile143fs)
NM_080911.3(UNG):c.569_570del (p.Ile190fs) rs772764942
NM_080911.3(UNG):c.572_573del (p.Glu191fs)
NM_080911.3(UNG):c.649dup (p.Thr217fs) rs1302020618
NM_080911.3(UNG):c.730C>T (p.Gln244Ter) rs751126274
NM_080911.3(UNG):c.752T>C (p.Phe251Ser) rs104894380

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