ClinVar Miner

List of variants in gene MED12 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.6045-24C>T rs140083803 0.01192
NC_000023.11:g.71118452A>G rs146126405 0.00760
NM_005120.3(MED12):c.553+218G>C rs144363608 0.00754
NM_005120.3(MED12):c.5025+72T>C rs73634863 0.00703
NM_005120.3(MED12):c.4528-21T>C rs73634862 0.00590
NM_005120.3(MED12):c.4119+175G>A rs60344770 0.00583
NC_000023.11:g.71142461G>A rs142511140 0.00382
NM_005120.3(MED12):c.6409-123C>G rs181905790 0.00363
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.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.5025+32C>T rs199897402 0.00131
NM_005120.3(MED12):c.554-204C>T rs756332661 0.00130
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.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.4527+35G>A rs188143570 0.00055
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.3475+52C>T rs146560693 0.00047
NM_005120.3(MED12):c.3355-25G>C rs376673975 0.00044
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_005120.3(MED12):c.4416-25C>A rs989329760 0.00039
NM_005120.3(MED12):c.204+25G>T rs377763948 0.00038
NM_005120.3(MED12):c.4254-28G>T rs369399007 0.00038
NM_005120.3(MED12):c.3867+22C>G rs149395528 0.00027
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.5827-33G>A rs768113300 0.00014
NM_005120.3(MED12):c.2849+39C>T rs746081067 0.00013
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.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005120.3(MED12):c.3692-11G>A rs773008879 0.00009
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.966T>C (p.Ala322=) rs370616416 0.00009
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 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.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 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.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005120.3(MED12):c.2311A>G (p.Ile771Val) rs749158402 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.2136C>T (p.Pro712=) rs377207665 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.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.204+13T>G rs901178143 0.00003
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala) rs752847512 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.4146C>T (p.Ile1382=) rs923552252 0.00003
NM_005120.3(MED12):c.4428G>A (p.Leu1476=) rs982066662 0.00003
NM_005120.3(MED12):c.5778T>C (p.Ser1926=) rs758530859 0.00003
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1066C>A (p.Arg356=) rs763867883 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.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln) rs747113641 0.00001
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln) rs199582086 0.00001
NM_005120.3(MED12):c.1929C>T (p.Asp643=) rs758195942 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.2128G>A (p.Val710Met) rs797045697 0.00001
NM_005120.3(MED12):c.3288T>G (p.Leu1096=) rs1167877198 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4048-4A>G rs1222848911 0.00001
NM_005120.3(MED12):c.4120-4C>G rs1253682531 0.00001
NM_005120.3(MED12):c.4416-8G>T rs770256156 0.00001
NM_005120.3(MED12):c.5026-12T>A rs1057520901 0.00001
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr) rs1042718707 0.00001
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.5952T>C (p.Leu1984=) rs2092336597 0.00001
NM_005120.3(MED12):c.6045-5T>C rs1294743596 0.00001
NM_005120.3(MED12):c.621A>T (p.Pro207=) rs1467258035 0.00001
NM_005120.3(MED12):c.6315A>G (p.Gln2105=) rs1343388487 0.00001
NM_005120.3(MED12):c.845G>A (p.Arg282Gln) rs1278775881 0.00001
NM_005120.3(MED12):c.877C>T (p.Leu293=) rs764716429 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.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217
NM_005120.3(MED12):c.3355-16_3355-13del rs1556336608
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3480T>C (p.Cys1160=) rs1463883892
NM_005120.3(MED12):c.3692-22A>C rs73539607
NM_005120.3(MED12):c.4009G>A (p.Glu1337Lys) rs1057520129
NM_005120.3(MED12):c.4048-11dup rs1213691583
NM_005120.3(MED12):c.4048-12C>T rs1556337459
NM_005120.3(MED12):c.4048-6T>C rs2147811804
NM_005120.3(MED12):c.4119+183G>A rs147423866
NM_005120.3(MED12):c.4415+33G>A rs372112475
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.4509C>T (p.Leu1503=) rs2147817069
NM_005120.3(MED12):c.4896G>A (p.Leu1632=)
NM_005120.3(MED12):c.5139A>C (p.Arg1713=)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5571A>C (p.Pro1857=)
NM_005120.3(MED12):c.5667A>G (p.Glu1889=)
NM_005120.3(MED12):c.5709T>A (p.Pro1903=) rs1602304963
NM_005120.3(MED12):c.5769A>G (p.Gly1923=)
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del) rs753370104
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del) 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.6210G>A (p.Gln2070=) rs1229904793
NM_005120.3(MED12):c.6226_6227insCAG (p.Gln2076delinsProGlu) rs2147839929
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_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[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
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.6318GCA[5] (p.Gln2115dup) rs1168018409
NM_005120.3(MED12):c.6330A>G (p.Gln2110=)
NM_005120.3(MED12):c.6336A>G (p.Gln2112=)
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200

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