ClinVar Miner

List of variants in gene UPF3B reported as likely benign for Inborn genetic diseases

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438 0.00012
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_080632.3(UPF3B):c.1329A>G (p.Gln443=) rs759151305 0.00004
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys) rs762578331 0.00003
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) rs201833722 0.00003
NM_080632.3(UPF3B):c.883T>C (p.Leu295=) rs755087452 0.00003
NM_080632.3(UPF3B):c.93G>A (p.Gly31=) rs750093901 0.00002
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser) rs372808214 0.00001
NM_080632.3(UPF3B):c.655A>C (p.Arg219=) rs761343515 0.00001
NM_080632.3(UPF3B):c.261G>T (p.Thr87=) rs749039837
NM_080632.3(UPF3B):c.263+3_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.822G>A (p.Leu274=) rs770572789

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