ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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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.4115A>G (p.Asn1372Ser) rs202009066 0.00009
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.2136C>T (p.Pro712=) rs377207665 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.1140C>T (p.His380=) rs753714929 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.4416-8G>T rs770256156 0.00001
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
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.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.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6330A>G (p.Gln2110=)
NM_005120.3(MED12):c.6336A>G (p.Gln2112=)

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