ClinVar Miner

List of variants in gene MED13L studied for not provided

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Gene type:
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Total variants: 154
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
GRCh37/hg19 12q24.21(chr12:116326288-116417238)x3
GRCh37/hg19 12q24.21(chr12:116327565-116409453)x3
GRCh37/hg19 12q24.21(chr12:116414991-116639877)x3
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
GRCh37/hg19 12q24.21(chr12:116498873-116536921)x1
GRCh37/hg19 12q24.21(chr12:116498873-116621185)x1
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116526507-116528428)x1
GRCh37/hg19 12q24.21(chr12:116526507-116536921)x1
GRCh37/hg19 12q24.21(chr12:116526663-116528428)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
NM_015335.4(MED13L):c.1010-11dup rs771044608
NM_015335.4(MED13L):c.1029G>C (p.Gln343His) rs749587320
NM_015335.4(MED13L):c.1044C>T (p.His348=) rs778123143
NM_015335.4(MED13L):c.1059T>C (p.Asp353=) rs1592949351
NM_015335.4(MED13L):c.1109_1110del (p.Pro370fs) rs1566011496
NM_015335.4(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.4(MED13L):c.1198A>G (p.Thr400Ala) rs143469047
NM_015335.4(MED13L):c.1283A>G (p.His428Arg) rs144410580
NM_015335.4(MED13L):c.1316A>G (p.Asn439Ser) rs189898124
NM_015335.4(MED13L):c.1336C>T (p.Gln446Ter) rs886041503
NM_015335.4(MED13L):c.1385C>T (p.Pro462Leu) rs772715909
NM_015335.4(MED13L):c.1503A>G (p.Gln501=) rs538329234
NM_015335.4(MED13L):c.150A>T (p.Pro50=) rs778797919
NM_015335.4(MED13L):c.1904G>A (p.Ser635Asn) rs144457722
NM_015335.4(MED13L):c.1914C>T (p.Leu638=) rs1279215396
NM_015335.4(MED13L):c.1943C>G (p.Pro648Arg) rs1322326599
NM_015335.4(MED13L):c.1992dup (p.Glu665fs) rs1057518424
NM_015335.4(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.4(MED13L):c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT rs771649019
NM_015335.4(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.4(MED13L):c.2352G>T (p.Arg784=) rs1226259653
NM_015335.4(MED13L):c.240C>T (p.Cys80=) rs1593196040
NM_015335.4(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.4(MED13L):c.2570-7T>C rs768826816
NM_015335.4(MED13L):c.2581T>C (p.Leu861=) rs1592930332
NM_015335.4(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.4(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.4(MED13L):c.2604A>G (p.Pro868=) rs772409015
NM_015335.4(MED13L):c.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.4(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.4(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.4(MED13L):c.2778C>T (p.Pro926=) rs144357346
NM_015335.4(MED13L):c.2871G>A (p.Pro957=) rs771187948
NM_015335.4(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.4(MED13L):c.311-13dup rs150398214
NM_015335.4(MED13L):c.3306A>G (p.Pro1102=) rs375910790
NM_015335.4(MED13L):c.3354C>T (p.Ser1118=) rs368878357
NM_015335.4(MED13L):c.3428C>T (p.Ala1143Val) rs763939921
NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.4(MED13L):c.3498G>A (p.Ala1166=) rs200960898
NM_015335.4(MED13L):c.3498G>T (p.Ala1166=) rs200960898
NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200
NM_015335.4(MED13L):c.3714T>G (p.Ala1238=) rs749014322
NM_015335.4(MED13L):c.3752G>A (p.Arg1251His) rs142574863
NM_015335.4(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.4(MED13L):c.3819G>A (p.Thr1273=) rs542711978
NM_015335.4(MED13L):c.3834G>A (p.Ala1278=) rs145466664
NM_015335.4(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663
NM_015335.4(MED13L):c.4051C>T (p.Gln1351Ter) rs1057524341
NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter) rs1565995054
NM_015335.4(MED13L):c.4115-10G>C rs1031922673
NM_015335.4(MED13L):c.4115-7A>T rs1054976642
NM_015335.4(MED13L):c.4224G>T (p.Leu1408Phe) rs1565994535
NM_015335.4(MED13L):c.4339-10A>G rs376463996
NM_015335.4(MED13L):c.4353G>A (p.Gly1451=) rs563931035
NM_015335.4(MED13L):c.4368C>T (p.Ile1456=) rs1592915963
NM_015335.4(MED13L):c.4386C>T (p.Asp1462=) rs760971347
NM_015335.4(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.4(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287
NM_015335.4(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.4(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.4(MED13L):c.4467C>T (p.Ser1489=) rs141892892
NM_015335.4(MED13L):c.4522C>T (p.His1508Tyr) rs75575870
NM_015335.4(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.4(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.4(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.4(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863
NM_015335.4(MED13L):c.4767G>A (p.Ser1589=) rs573917510
NM_015335.4(MED13L):c.4788T>A (p.Ile1596=) rs757338321
NM_015335.4(MED13L):c.4868C>T (p.Ala1623Val) rs201484832
NM_015335.4(MED13L):c.4956-10C>G rs1060504701
NM_015335.4(MED13L):c.4956-5T>A rs771118133
NM_015335.4(MED13L):c.4989G>A (p.Thr1663=) rs755349611
NM_015335.4(MED13L):c.501C>T (p.Phe167=) rs1383072937
NM_015335.4(MED13L):c.5040C>T (p.Tyr1680=) rs1592913487
NM_015335.4(MED13L):c.5058G>A (p.Thr1686=) rs74757206
NM_015335.4(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.4(MED13L):c.5134G>A (p.Asp1712Asn) rs1565992052
NM_015335.4(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.4(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.4(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015335.4(MED13L):c.5409C>T (p.Ala1803=) rs756949902
NM_015335.4(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.4(MED13L):c.5502C>T (p.His1834=) rs200440551
NM_015335.4(MED13L):c.5589-1G>A rs1064796543
NM_015335.4(MED13L):c.5732-3C>T rs370245982
NM_015335.4(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647
NM_015335.4(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.4(MED13L):c.57C>A (p.Ser19=) rs1060504702
NM_015335.4(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183
NM_015335.4(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.4(MED13L):c.5949T>C (p.Ser1983=) rs755349550
NM_015335.4(MED13L):c.5955C>T (p.Leu1985=) rs113830913
NM_015335.4(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.4(MED13L):c.60C>T (p.Asn20=) rs746193221
NM_015335.4(MED13L):c.626-2A>G rs1555249664
NM_015335.4(MED13L):c.626-4A>G rs768048151
NM_015335.4(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.4(MED13L):c.6348G>A (p.Ser2116=) rs769874135
NM_015335.4(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.4(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.4(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.4(MED13L):c.6522C>T (p.Asn2174=) rs370692319
NM_015335.4(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.4(MED13L):c.656C>T (p.Thr219Met) rs191743300
NM_015335.4(MED13L):c.690A>G (p.Pro230=) rs1592953981
NM_015335.4(MED13L):c.72+10C>T rs779448093
NM_015335.4(MED13L):c.73-1G>A rs1555225472
NM_015335.4(MED13L):c.73-5del rs1593196291
NM_015335.4(MED13L):c.771C>T (p.Asp257=) rs148136300
NM_015335.4(MED13L):c.878del (p.Pro293fs) rs1555249561
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter)
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs)
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His)
NM_015335.5(MED13L):c.3461A>G (p.Asn1154Ser)
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=)
NM_015335.5(MED13L):c.5321T>A (p.Phe1774Tyr) rs1592911270
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=)
NM_015335.5(MED13L):c.5921G>A (p.Arg1974Gln)
NM_015335.5(MED13L):c.627dup (p.Leu210fs)
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter)
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905
NM_015335.5(MED13L):c.82dup (p.Thr28fs)
NM_015335.5(MED13L):c.993A>G (p.Pro331=)

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