ClinVar Miner

List of variants in gene MED12 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.2259G>A (p.Arg753=) rs61752446 0.01916
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=) rs369268877 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 0.00006
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2274T>C (p.Phe758=) rs779918145
NM_005120.3(MED12):c.2294A>T (p.Asp765Val) rs1243443016
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
NM_005120.3(MED12):c.3868-7T>A rs587780392
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.5266C>T (p.Leu1756=) rs1556338815
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6339A>G (p.Gln2113=) rs757508922
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.708C>G (p.Thr236=) rs34668206

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