List of variants in gene UPF3B reported as pathogenic for X-linked intellectual disability with marfanoid habitus

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)	rs2147783395
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)	rs122468181
NM_080632.3(UPF3B):c.1351del (p.Arg451fs)	rs1556377028
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)	rs2521577196
NM_080632.3(UPF3B):c.442_443del (p.Asp148fs)	rs2521545000
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp)	rs122468182
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer)	rs1603371016
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)	rs2147787331
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881
NM_080632.3(UPF3B):c.684_685del (p.Glu230fs)	rs2147787295
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs)	rs1064794254
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs)	rs1603370185

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