ClinVar Miner

List of variants in gene MED12 reported as pathogenic for not provided

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Total variants: 5
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NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.473G>A (p.Trp158Ter) rs1556334114
NM_005120.3(MED12):c.5125C>T (p.Arg1709Ter) rs886041581
NM_005120.3(MED12):c.5135_5138dup (p.Val1714fs) rs1556338764
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter) rs1569482431

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