ClinVar Miner

List of variants in gene UPF3B reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_023010.3(UPF3B):c.1312del (p.Arg438fs) rs1556377028
NM_023010.3(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
NM_023010.3(UPF3B):c.670_673GAAA[1] (p.Arg225fs) rs794727881
NM_023010.3(UPF3B):c.693_694AG[2] (p.Arg233fs) rs1064794254
NM_023010.3(UPF3B):c.828_829del (p.Gly277fs) rs1603370185
NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016

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