ClinVar Miner

List of variants in gene MED12 studied for not specified

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Total variants: 118
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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.205-38C>T rs12850852 0.22082
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.5401-25C>T rs41298482 0.15124
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.2259G>A (p.Arg753=) rs61752446 0.01916
NM_005120.3(MED12):c.6045-24C>T rs140083803 0.01192
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.2886C>T (p.Ser962=) rs34761462 0.00604
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005120.3(MED12):c.5400+7G>A rs201254124 0.00038
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00025
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00013
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.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.-47A>T rs767078113 0.00008
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527 0.00008
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.6409-14C>A rs374791085 0.00007
NM_005120.3(MED12):c.-28G>T rs373552360 0.00006
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00005
NM_005120.3(MED12):c.6279A>G (p.Gln2093=) rs1050062166 0.00005
NM_005120.3(MED12):c.1975-5C>T rs200891932 0.00004
NM_005120.3(MED12):c.3691+4C>T rs373381746 0.00004
NM_005120.3(MED12):c.4863+15C>T rs778076528 0.00004
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458 0.00003
NM_005120.3(MED12):c.4416-48T>C rs12849277 0.00003
NM_005120.3(MED12):c.129A>G (p.Gln43=) rs780634712 0.00002
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.204+7C>T rs776275934 0.00002
NM_005120.3(MED12):c.3516C>G (p.Thr1172=) rs1057521581 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.5088G>A (p.Pro1696=) rs202167558 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506 0.00002
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser) rs2092336419 0.00002
NM_005120.3(MED12):c.735+15A>G rs202206536 0.00002
NM_005120.3(MED12):c.736-4A>G rs371311763 0.00002
NM_005120.3(MED12):c.1745-19C>T rs1057524262 0.00001
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697 0.00001
NM_005120.3(MED12):c.3354+26A>G rs749625903 0.00001
NM_005120.3(MED12):c.4047+14G>A rs774488297 0.00001
NM_005120.3(MED12):c.4470A>G (p.Lys1490=) rs766138859 0.00001
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450 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.6044+16G>C rs367904425 0.00001
NM_005120.3(MED12):c.6267+20T>C rs1032542640 0.00001
GRCh37/hg19 Xq13.1(chrX:70344802-70345036)
NM_005120.3(MED12):c.100-19C>T rs930154299
NM_005120.3(MED12):c.1101+8_1101+9insCC rs1214824818
NM_005120.3(MED12):c.1101+8_1101+9insCCTAGGCGGGTACCCTACAGCTACAGGTAGGTACCC
NM_005120.3(MED12):c.111G>A (p.Thr37=) rs1057522480
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr) rs950787066
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2056-20C>T rs1057521831
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.2350C>T (p.Arg784Cys) rs2147793341
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2850-7C>G rs1556336208
NM_005120.3(MED12):c.2941T>A (p.Ser981Thr) rs2147799502
NM_005120.3(MED12):c.3231G>T (p.Leu1077=) rs1556336518
NM_005120.3(MED12):c.3412C>A (p.Arg1138=) rs1057523906
NM_005120.3(MED12):c.3456C>T (p.Ile1152=) rs1556336642
NM_005120.3(MED12):c.3516C>A (p.Thr1172=) rs1057521581
NM_005120.3(MED12):c.3577+17T>G rs1057523979
NM_005120.3(MED12):c.3577+9C>A rs1556336775
NM_005120.3(MED12):c.3801C>T (p.Asn1267=) rs1057520418
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.4120-12C>T rs1556337617
NM_005120.3(MED12):c.4254-5T>A rs2092319756
NM_005120.3(MED12):c.4416-43_4416-14del rs1556337864
NM_005120.3(MED12):c.4416-77CTCTT[11] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[6] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[7] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[8] rs56658066
NM_005120.3(MED12):c.5026-17T>C rs1556338729
NM_005120.3(MED12):c.5041A>G (p.Thr1681Ala) rs2147825903
NM_005120.3(MED12):c.5266C>T (p.Leu1756=) rs1556338815
NM_005120.3(MED12):c.553+12C>G rs1556334127
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del) rs769857818
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup) rs754533796
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
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.6288GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
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.6408+16C>T rs1057522248
NM_005120.3(MED12):c.708C>G (p.Thr236=) rs34668206

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