ClinVar Miner

List of variants in gene MED12 reported as uncertain significance by Diagnostic Laboratory, Strasbourg University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln) rs754537871 0.00001
NM_005120.3(MED12):c.5915C>T (p.Pro1972Leu) rs2092336469
NM_005120.3(MED12):c.647G>T (p.Gly216Val) rs2092288219

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