ClinVar Miner

List of variants in gene MED12 reported as uncertain significance for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP
NM_005120.2(MED12):c.1475A>G (p.Asp492Gly) rs1292888378
NM_005120.2(MED12):c.3303C>G (p.Cys1101Trp) rs1556336534
NM_005120.2(MED12):c.3413G>A (p.Arg1138Gln) rs869312960
NM_005120.2(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.2(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.2(MED12):c.4505C>G (p.Ser1502Cys) rs1369442321
NM_005120.2(MED12):c.5092G>A (p.Ala1698Thr) rs1556338747
NM_005120.2(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.2(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.2(MED12):c.887G>A (p.Arg296Gln) rs1556334519

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