ClinVar Miner

List of variants in gene MED12 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
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.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801 0.00019
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.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005120.3(MED12):c.3918C>T (p.Asp1306=) rs372389957 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=) rs369268877 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala) rs372326268 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.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 0.00008
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 0.00006
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594 0.00006
NM_005120.3(MED12):c.4620G>T (p.Val1540=) rs756385578 0.00006
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
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.906A>G (p.Thr302=) rs1458066906 0.00005
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5442G>C (p.Val1814=) rs773540568 0.00004
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00004
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln) rs750926172 0.00004
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.3333C>T (p.Asn1111=) rs781289776 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.5778T>C (p.Ser1926=) rs758530859 0.00003
NM_005120.3(MED12):c.6168A>G (p.Gln2056=) rs745565325 0.00003
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149 0.00003
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.2172T>C (p.Val724=) rs187478018 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2982C>T (p.Ser994=) rs886039139 0.00002
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4761C>T (p.Ser1587=) rs369563649 0.00002
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057 0.00002
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506 0.00002
NM_005120.3(MED12):c.5576G>A (p.Arg1859His) rs763700798 0.00002
NM_005120.3(MED12):c.5808C>T (p.Tyr1936=) rs757398839 0.00002
NM_005120.3(MED12):c.5991C>T (p.Gly1997=) rs780565385 0.00002
NM_005120.3(MED12):c.1098A>G (p.Leu366=) rs1325162892 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.147T>A (p.Pro49=) rs774875020 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.2631C>T (p.Phe877=) rs751190759 0.00001
NM_005120.3(MED12):c.2698C>T (p.Leu900=) rs1470081405 0.00001
NM_005120.3(MED12):c.2784T>G (p.Ala928=) rs1431106485 0.00001
NM_005120.3(MED12):c.3063C>T (p.Phe1021=) rs797045698 0.00001
NM_005120.3(MED12):c.3948G>A (p.Gln1316=) rs1359267668 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.4929G>A (p.Lys1643=) rs964113005 0.00001
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163 0.00001
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450 0.00001
NM_005120.3(MED12):c.5058G>A (p.Ser1686=) rs1346436513 0.00001
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=) rs747217643 0.00001
NM_005120.3(MED12):c.5916T>C (p.Pro1972=) rs2092336480 0.00001
NM_005120.3(MED12):c.6183A>G (p.Gln2061=) rs749041154 0.00001
NM_005120.3(MED12):c.6273G>A (p.Gln2091=) rs1556340048 0.00001
NM_005120.3(MED12):c.6312G>A (p.Gln2104=) rs1416010935 0.00001
NM_005120.3(MED12):c.6315A>G (p.Gln2105=) rs1343388487 0.00001
NM_005120.3(MED12):c.6399C>G (p.Ser2133=) rs1321273556 0.00001
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1290G>A (p.Glu430=) rs1556334791
NM_005120.3(MED12):c.171C>T (p.Gly57=)
NM_005120.3(MED12):c.1893C>G (p.Pro631=)
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)
NM_005120.3(MED12):c.2179G>A (p.Asp727Asn)
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2322C>T (p.Ile774=)
NM_005120.3(MED12):c.2455C>A (p.Arg819=)
NM_005120.3(MED12):c.2625C>T (p.Phe875=)
NM_005120.3(MED12):c.3009C>A (p.Thr1003=) rs375493995
NM_005120.3(MED12):c.3427C>T (p.Leu1143=)
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.3645C>T (p.Ile1215=)
NM_005120.3(MED12):c.4110C>G (p.Thr1370=)
NM_005120.3(MED12):c.4296T>A (p.Ile1432=)
NM_005120.3(MED12):c.4500T>C (p.Leu1500=)
NM_005120.3(MED12):c.4530T>C (p.Ile1510=)
NM_005120.3(MED12):c.456T>C (p.Pro152=)
NM_005120.3(MED12):c.4638G>A (p.Thr1546=) rs980389482
NM_005120.3(MED12):c.4650C>T (p.Ser1550=) rs886039075
NM_005120.3(MED12):c.4668G>A (p.Glu1556=)
NM_005120.3(MED12):c.4674C>T (p.Ala1558=)
NM_005120.3(MED12):c.46C>A (p.Arg16=)
NM_005120.3(MED12):c.4747T>C (p.Leu1583=)
NM_005120.3(MED12):c.4764G>A (p.Val1588=)
NM_005120.3(MED12):c.4878G>A (p.Glu1626=)
NM_005120.3(MED12):c.5163G>A (p.Gln1721=)
NM_005120.3(MED12):c.5164C>A (p.Arg1722=)
NM_005120.3(MED12):c.522G>A (p.Lys174=)
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5490A>G (p.Thr1830=)
NM_005120.3(MED12):c.5745C>G (p.Leu1915=)
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.5964C>T (p.Thr1988=)
NM_005120.3(MED12):c.5976A>G (p.Gln1992=)
NM_005120.3(MED12):c.606T>C (p.Ala202=)
NM_005120.3(MED12):c.6111C>T (p.Gly2037=)
NM_005120.3(MED12):c.6123C>T (p.Gly2041=)
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del) rs762261992
NM_005120.3(MED12):c.6177A>G (p.Gln2059=) rs775267316
NM_005120.3(MED12):c.6189G>A (p.Gln2063=)
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
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[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6309A>G (p.Gln2103=)
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6330ACAGCAACA[3] (p.Gln2115_His2116insGlnGlnGln)
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup) rs1433422316
NM_005120.3(MED12):c.810T>C (p.Asp270=)

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