ClinVar Miner

List of variants in gene MED12 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206 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.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594 0.00006
NM_005120.3(MED12):c.1033C>T (p.Pro345Ser) rs761157306 0.00005
NM_005120.3(MED12):c.2136C>T (p.Pro712=) rs377207665 0.00004
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372 0.00004
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291 0.00002
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794 0.00002
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.4048-4A>G rs1222848911 0.00001
NM_005120.3(MED12):c.1745-3C>T rs1602296746
NM_005120.3(MED12):c.1926T>A (p.Asp642Glu)
NM_005120.3(MED12):c.1994C>T (p.Ser665Phe) rs764981858
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
NM_005120.3(MED12):c.2320A>G (p.Ile774Val) rs2147793183
NM_005120.3(MED12):c.3956G>A (p.Arg1319His) rs1421325265
NM_005120.3(MED12):c.4355A>C (p.Glu1452Ala) rs2092319925
NM_005120.3(MED12):c.4415+3A>G rs1602301683
NM_005120.3(MED12):c.4416-66_4416-65insTTTCT
NM_005120.3(MED12):c.4416-73T>C
NM_005120.3(MED12):c.4416-74_4416-73insCCTCTTCTCT
NM_005120.3(MED12):c.4416-78_4416-74dup
NM_005120.3(MED12):c.4684C>T (p.Leu1562=)
NM_005120.3(MED12):c.4896G>A (p.Leu1632=)
NM_005120.3(MED12):c.5139A>C (p.Arg1713=)
NM_005120.3(MED12):c.5571A>C (p.Pro1857=)
NM_005120.3(MED12):c.5667A>G (p.Glu1889=)
NM_005120.3(MED12):c.5769A>G (p.Gly1923=)
NM_005120.3(MED12):c.5808C>G (p.Tyr1936Ter)
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala) rs777453338
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.734A>G (p.Gln245Arg) rs1569480972

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