ClinVar Miner

List of variants in gene MED12 studied for MED12-related disorder

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
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.5400+7G>A rs201254124 0.00038
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.3918C>T (p.Asp1306=) rs372389957 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149 0.00003
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.736-4A>G rs371311763 0.00002
NM_005120.3(MED12):c.1098A>G (p.Leu366=) rs1325162892 0.00001
NM_005120.3(MED12):c.2351G>A (p.Arg784His) rs777238737 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu) rs151316557 0.00001
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450 0.00001
NM_005120.3(MED12):c.5584C>T (p.Arg1862Cys) rs200279192 0.00001
NM_005120.3(MED12):c.6045-5T>C rs1294743596 0.00001
NM_005120.3(MED12):c.707C>T (p.Thr236Ile) rs1278481602 0.00001
NM_005120.3(MED12):c.1272C>T (p.Ile424=)
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del) rs1261680398
NM_005120.3(MED12):c.2125G>C (p.Glu709Gln)
NM_005120.3(MED12):c.2372-8C>A
NM_005120.3(MED12):c.2529G>C (p.Gln843His) rs2147795833
NM_005120.3(MED12):c.2541+1G>A
NM_005120.3(MED12):c.2736G>A (p.Ser912=)
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe) rs2147799414
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala) rs2147802401
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3691+9G>A
NM_005120.3(MED12):c.3691+9dup rs966516434
NM_005120.3(MED12):c.3734G>A (p.Gly1245Glu)
NM_005120.3(MED12):c.4416-42_4416-9del
NM_005120.3(MED12):c.4416-77CTCTT[10]
NM_005120.3(MED12):c.4416-77CTCTT[8] rs56658066
NM_005120.3(MED12):c.4416-77CTCTT[9]
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
NM_005120.3(MED12):c.4728-9C>T
NM_005120.3(MED12):c.5691_5692del (p.Tyr1898fs) rs2092335044
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
NM_005120.3(MED12):c.579C>T (p.Tyr193=)
NM_005120.3(MED12):c.5887A>G (p.Met1963Val)
NM_005120.3(MED12):c.5C>T (p.Ala2Val)
NM_005120.3(MED12):c.6042A>G (p.Gln2014=)
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del) rs769857818
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.629C>T (p.Ala210Val)
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6384A>G (p.Gln2128=) rs1569482811
NM_005120.3(MED12):c.6384_6389dup (p.Gln2132_Ser2133insProGln)
NM_005120.3(MED12):c.78T>C (p.Pro26=)

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