ClinVar Miner

List of variants in gene UPF3B studied 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: 14
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HGVS dbSNP
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.1118G>A (p.Arg373His) rs146785878
NM_080632.2(UPF3B):c.1121G>A (p.Arg374His) rs143538947
NM_080632.2(UPF3B):c.1202G>A (p.Arg401Gln) rs775993429
NM_080632.2(UPF3B):c.1288C>T (p.Arg430Ter) rs122468181
NM_080632.2(UPF3B):c.962T>C (p.Leu321Ser) rs775715153
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer) rs1603371016
NM_080632.3(UPF3B):c.711_713AGA[2] (p.Glu240del)

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