ClinVar Miner

List of variants studied for X-linked intellectual disability with marfanoid habitus by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (7):

Syndromic X-linked intellectual disability 14
X-linked intellectual disability with marfanoid habitus
X-linked intellectual disability with marfanoid habitus; Blepharophimosis - intellectual disability syndrome, MKB type; FG syndrome
X-linked intellectual disability with marfanoid habitus; FG syndrome 1
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type
X-linked intellectual disability with marfanoid habitus; FG syndrome; MED12-related intellectual disability syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)	rs147945173	0.00002
NM_080632.3(UPF3B):c.846+1G>A	rs373920032	0.00001
NM_005120.3(MED12):c.949T>C (p.Ser317Pro)
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)	rs2147783395
NM_080632.3(UPF3B):c.442_443del (p.Asp148fs)
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881

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