ClinVar Miner

List of variants in gene MED12 studied for Inborn genetic diseases

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.5966G>A (p.Arg1989His) rs1569482448 0.00004
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506 0.00002
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873 0.00002
NM_005120.3(MED12):c.931G>A (p.Gly311Ser) rs1477622307 0.00002
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.144G>T (p.Gln48His)
NM_005120.3(MED12):c.244C>T (p.Arg82Cys)
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3303C>G (p.Cys1101Trp) rs1556336534
NM_005120.3(MED12):c.3413G>A (p.Arg1138Gln) rs869312960
NM_005120.3(MED12):c.3467T>G (p.Leu1156Arg)
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3691+5G>A rs2147806182
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3927C>A (p.Asp1309Glu)
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4400G>T (p.Arg1467Leu)
NM_005120.3(MED12):c.4505C>G (p.Ser1502Cys) rs1369442321
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp) rs2092323072
NM_005120.3(MED12):c.5092G>A (p.Ala1698Thr) rs1556338747
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5359A>T (p.Thr1787Ser)
NM_005120.3(MED12):c.536A>G (p.His179Arg) rs2092285751
NM_005120.3(MED12):c.572C>T (p.Thr191Ile)
NM_005120.3(MED12):c.5825A>G (p.Gln1942Arg)
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6250C>A (p.Gln2084Lys)
NM_005120.3(MED12):c.6358C>T (p.Gln2120Ter) rs1556340124
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005120.3(MED12):c.964G>T (p.Ala322Ser)
NM_005120.3(MED12):c.980C>T (p.Thr327Met)

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