List of variants in gene MED12 reported as likely benign for 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.384A>G (p.Gln128=)	rs201566660	0.00225
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)	rs587778437	0.00018
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)	rs3810670	0.00010
NM_005120.3(MED12):c.1974+15C>T	rs186876895	0.00001
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)	rs757160341

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