ClinVar Miner

List of variants in gene MED12 reported as likely pathogenic

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Total variants: 21
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HGVS dbSNP
NC_000023.11:g.71129143G>T
NM_005120.3(MED12):c.1273dup (p.Glu425fs) rs1556334780
NM_005120.3(MED12):c.1300del (p.Ala434fs) rs1556334793
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1732G>C (p.Ala578Pro) rs1131691350
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val) rs1057519912
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe) rs1057519912
NM_005120.3(MED12):c.3844G>A (p.Val1282Met) rs398124197
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro) rs1556337085
NM_005120.3(MED12):c.4265G>A (p.Arg1422His) rs1255849432
NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg) rs1057518921
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.93G>C (p.Gln31His) rs1057521988

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