ClinVar Miner

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

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_080632.1(UPF3B):c.697_698delAG (p.Arg233Glufs) rs1064794254
NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.2(UPF3B):c.1351delC (p.Arg451Aspfs) rs1556377028
NM_080632.2(UPF3B):c.478T>G (p.Tyr160Asp) rs122468182
UPF3B, 2-BP DEL, 867AG
UPF3B, 4-BP DEL, 674GAAA

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