ClinVar Miner

List of variants in gene MED12 studied for X-linked intellectual disability with marfanoid habitus

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.205-38C>T rs12850852 0.21650
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00021
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00002
NM_005120.3(MED12):c.6128G>A (p.Arg2043His) rs779515761 0.00002
NM_005120.3(MED12):c.1746G>A (p.Thr582=) rs773240125 0.00001
NM_005120.3(MED12):c.2982-20C>T rs773211847 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe) rs2092303356
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln) rs2092303365
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) rs2092303518
NM_005120.3(MED12):c.3002A>G (p.Lys1001Arg)
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) rs2092311027
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) rs2092312145
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.4244C>G (p.Pro1415Arg)
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn) rs779481901
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) rs2147830593
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005120.3(MED12):c.949T>C (p.Ser317Pro) rs1330990917

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