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: 28
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HGVS dbSNP
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446
NM_005120.3(MED12):c.2274T>C (p.Phe758=) rs779918145
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu) rs797045698
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391
NM_005120.3(MED12):c.3868-7T>A rs587780392
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497
NM_005120.3(MED12):c.5266C>T (p.Leu1756=) rs1556338815
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6288_6290GCA[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
NM_005120.3(MED12):c.736-8A>C rs62609586
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264

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