ClinVar Miner

List of variants in gene MED12 reported as likely benign for History of neurodevelopmental disorder

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656
NM_005120.3(MED12):c.1203G>A (p.Pro401=)
NM_005120.3(MED12):c.2271G>A (p.Leu757=)
NM_005120.3(MED12):c.2571G>A (p.Thr857=)
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801

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