ClinVar Miner

List of variants reported as pathogenic for X-linked intellectual disability with marfanoid habitus by OMIM

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	rs80338759
NM_080632.3(UPF3B):c.1288C>T (p.Arg430Ter)	rs122468181
NM_080632.3(UPF3B):c.478T>G (p.Tyr160Asp)	rs122468182
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)	rs794727881
NM_080632.3(UPF3B):c.867_868del (p.Gly290fs)	rs1603370185

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