ClinVar Miner

List of variants in gene LOC126863275, MED12 studied 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:
Gene type:
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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