ClinVar Miner

List of variants in gene MED12 reported as likely pathogenic by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_005120.3(MED12):c.1273dup (p.Glu425fs) rs1556334780
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.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.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.93G>C (p.Gln31His) rs1057521988

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