ClinVar Miner

List of variants reported as likely benign for Syndromic X-linked intellectual disability 14

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His) rs140032597 0.00011
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=) rs756540483 0.00001
NM_080632.3(UPF3B):c.33G>A (p.Glu11=) rs772315243 0.00001
NM_080632.3(UPF3B):c.655A>C (p.Arg219=) rs761343515 0.00001
NM_080632.3(UPF3B):c.75C>T (p.Ser25=) rs780353084 0.00001
NM_080632.3(UPF3B):c.1008-18_1008-17del
NM_080632.3(UPF3B):c.108G>A (p.Gly36=)
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=) rs2056117477
NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)
NM_080632.3(UPF3B):c.1303-19A>G
NM_080632.3(UPF3B):c.1440A>G (p.Gly480=)
NM_080632.3(UPF3B):c.156+16C>T
NM_080632.3(UPF3B):c.159G>T (p.Val53=)
NM_080632.3(UPF3B):c.15G>A (p.Lys5=)
NM_080632.3(UPF3B):c.195G>A (p.Glu65=)
NM_080632.3(UPF3B):c.228G>A (p.Glu76=)
NM_080632.3(UPF3B):c.261G>A (p.Thr87=)
NM_080632.3(UPF3B):c.261G>T (p.Thr87=) rs749039837
NM_080632.3(UPF3B):c.263+10_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+11_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+12A>G rs2056306448
NM_080632.3(UPF3B):c.263+12_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+13_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18del
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA rs55712755
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC
NM_080632.3(UPF3B):c.263+3_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+4_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+6_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+7A>T rs2147802761
NM_080632.3(UPF3B):c.263+7_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+8_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755
NM_080632.3(UPF3B):c.264-6C>T
NM_080632.3(UPF3B):c.462C>T (p.Ile154=)
NM_080632.3(UPF3B):c.580+10C>A
NM_080632.3(UPF3B):c.594C>G (p.Thr198=)
NM_080632.3(UPF3B):c.625-11T>C
NM_080632.3(UPF3B):c.625-15_625-14insGG
NM_080632.3(UPF3B):c.625-4C>T
NM_080632.3(UPF3B):c.66C>T (p.Ala22=) rs890947408
NM_080632.3(UPF3B):c.717A>G (p.Glu239=)
NM_080632.3(UPF3B):c.808-8G>A
NM_080632.3(UPF3B):c.80G>A (p.Gly27Asp)
NM_080632.3(UPF3B):c.846+19A>T
NM_080632.3(UPF3B):c.847-20_847-18del
NM_080632.3(UPF3B):c.847-7T>C
NM_080632.3(UPF3B):c.87C>T (p.Thr29=)
NM_080632.3(UPF3B):c.903C>T (p.Ala301=)
NM_080632.3(UPF3B):c.912G>A (p.Leu304=)
NM_080632.3(UPF3B):c.960A>C (p.Thr320=) rs2147784327
NM_080632.3(UPF3B):c.981C>T (p.Ser327=)

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