ClinVar Miner

List of variants in gene MED12 reported as pathogenic 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)	rs80338758
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)	rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)	rs387907361
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)	rs387907362
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)	rs1085307941

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