ClinVar Miner

List of variants in gene combination LOC126863275, MED12 reported as not provided for Ohdo syndrome and variants

Included ClinVar conditions (6):

Blepharophimosis - intellectual disability syndrome, MKB type
Blepharophimosis - intellectual disability syndrome, SBBYS type
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)	rs2092292878

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