List of variants in gene MED12 reported as uncertain significance for X-linked intellectual disability with marfanoid habitus; FG syndrome 1; 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)	rs372606012	0.00006
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)	rs368913305	0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)	rs752300879	0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val)	rs1401003961	0.00001
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)	rs1135401775
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)	rs2092313149
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)	rs2092320033
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)	rs1379201163

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