ClinVar Miner

List of variants reported as benign for X-linked intellectual disability with marfanoid habitus by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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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.1072C>T (p.Arg358Cys) rs139646537 0.00027
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.1260A>G (p.Glu420=) rs777574933 0.00010
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00009
NM_080632.3(UPF3B):c.470-19T>C rs779967826 0.00009
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) rs775715153 0.00008
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_080632.3(UPF3B):c.807+19T>C rs750984351 0.00004
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) rs143487370 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.265T>C (p.Leu89=) rs761622396 0.00001
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.263+14_263+18dup
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.370+20G>A
NM_080632.3(UPF3B):c.371-9del
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)

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