ClinVar Miner

List of variants studied for MED12-related intellectual disability syndrome by Baylor Genetics

Included ClinVar conditions (10):

Blepharophimosis - intellectual disability syndrome, MKB type
FG syndrome
FG syndrome 1
MED12-related intellectual disability syndrome
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; 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.4864-6C>T	rs1018026145	0.00005
NM_005120.3(MED12):c.3692-7A>G	rs1014804538	0.00001
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly)	rs985384811	0.00001
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys)	rs2092311027
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
NM_005120.3(MED12):c.6408+1G>A	rs2092347488

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