ClinVar Miner

List of variants in gene UPF3B reported by Ambry Genetics

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp) rs374676402 0.00007
NM_080632.3(UPF3B):c.277A>G (p.Met93Val) rs770557726 0.00004
NM_080632.3(UPF3B):c.352G>A (p.Val118Ile) rs187600102 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.667A>G (p.Ile223Val) rs147945173 0.00002
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly) rs1402767794 0.00001
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro) rs748622995 0.00001
NM_080632.3(UPF3B):c.655A>C (p.Arg219=) rs761343515 0.00001
NM_080632.3(UPF3B):c.76G>A (p.Gly26Ser) rs1050045607 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080632.3(UPF3B):c.1001C>T (p.Pro334Leu)
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1148A>T (p.Glu383Val)
NM_080632.3(UPF3B):c.1243A>G (p.Ser415Gly)
NM_080632.3(UPF3B):c.1260A>C (p.Glu420Asp) rs777574933
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
NM_080632.3(UPF3B):c.1329A>G (p.Gln443=)
NM_080632.3(UPF3B):c.1421T>A (p.Ile474Asn) rs2056076026
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.264-6C>T
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.686G>A (p.Arg229Lys)
NM_080632.3(UPF3B):c.77G>A (p.Gly26Asp)
NM_080632.3(UPF3B):c.80G>T (p.Gly27Val)
NM_080632.3(UPF3B):c.822G>A (p.Leu274=)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)

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