ClinVar Miner

List of variants in gene MED13L reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.395+60A>G rs17498473 0.01828
NM_015335.5(MED13L):c.4532-257C>G rs76168561 0.01532
NM_015335.5(MED13L):c.4955+139A>G rs71469744 0.01378
NM_015335.5(MED13L):c.625+41C>T rs114742297 0.01086
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01078
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_015335.5(MED13L):c.73-147C>T rs7132417 0.00960
NM_015335.5(MED13L):c.1280+305T>G rs189380610 0.00864
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.5891-171A>G rs16946502 0.00656
NM_015335.5(MED13L):c.5365-292T>C rs78938873 0.00654
NM_015335.5(MED13L):c.2013-10T>G rs779894322 0.00634
NM_015335.5(MED13L):c.395+59G>A rs181624925 0.00614
NM_015335.5(MED13L):c.5890+77G>A rs76301952 0.00554
NM_015335.5(MED13L):c.479+35C>T rs186688405 0.00434
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.*285T>C rs182172437 0.00330
NM_015335.5(MED13L):c.5891-284G>A rs531165588 0.00297
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.2570-107C>T rs771532250 0.00192
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.5365-135A>G rs184714402 0.00113
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.73-7T>C rs199550041 0.00048
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015335.5(MED13L):c.2012+48G>A rs201872286 0.00030
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015335.5(MED13L):c.201C>T (p.Asn67=) rs144509091 0.00019
NM_015335.5(MED13L):c.4339-10A>G rs376463996 0.00019
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
NM_015335.5(MED13L):c.969G>A (p.Met323Ile) rs141207031 0.00017
NM_015335.5(MED13L):c.2469+34C>T rs368021400 0.00015
NM_015335.5(MED13L):c.479+47G>A rs375359082 0.00015
NM_015335.5(MED13L):c.1176-26A>G rs553710147 0.00014
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=) rs142191700 0.00013
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_015335.5(MED13L):c.2292G>A (p.Pro764=) rs754150111 0.00011
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr) rs757625355 0.00011
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015335.5(MED13L):c.5562C>T (p.Cys1854=) rs139063441 0.00007
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=) rs368878357 0.00006
NM_015335.5(MED13L):c.4868C>T (p.Ala1623Val) rs201484832 0.00006
NM_015335.5(MED13L):c.5949T>C (p.Ser1983=) rs755349550 0.00006
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=) rs769874135 0.00006
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.3934+3A>G rs747852225 0.00005
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe) rs201690921 0.00005
NM_015335.5(MED13L):c.249A>G (p.Leu83=) rs138672862 0.00004
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00004
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=) rs145072799 0.00004
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.2470-13C>T rs757038374 0.00003
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=) rs1482014512 0.00003
NM_015335.5(MED13L):c.626-10C>A rs776407123 0.00003
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.4353G>A (p.Gly1451=) rs563931035 0.00002
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=) rs768288594 0.00002
NM_015335.5(MED13L):c.1198A>G (p.Thr400Ala) rs143469047 0.00001
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 0.00001
NM_015335.5(MED13L):c.2211G>A (p.Thr737=) rs747879843 0.00001
NM_015335.5(MED13L):c.3714T>G (p.Ala1238=) rs749014322 0.00001
NM_015335.5(MED13L):c.4468G>A (p.Gly1490Ser) rs749956782 0.00001
NM_015335.5(MED13L):c.4748C>G (p.Ser1583Cys) rs1181249892 0.00001
NM_015335.5(MED13L):c.4956-5T>A rs771118133 0.00001
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=) rs753488932 0.00001
NM_015335.5(MED13L):c.879G>A (p.Pro293=) rs140586744 0.00001
NM_015335.5(MED13L):c.1010-4dup rs771044608
NM_015335.5(MED13L):c.1044C>T (p.His348=) rs778123143
NM_015335.5(MED13L):c.1059T>C (p.Asp353=) rs1592949351
NM_015335.5(MED13L):c.150A>T (p.Pro50=) rs778797919
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-29_2013-21dup rs542425590
NM_015335.5(MED13L):c.2013-29_2013-22dup rs542425590
NM_015335.5(MED13L):c.2013-8_2013-7insTTTTTTTTTTTTTTTTTT rs771649019
NM_015335.5(MED13L):c.240C>T (p.Cys80=) rs1593196040
NM_015335.5(MED13L):c.2581T>C (p.Leu861=) rs1592930332
NM_015335.5(MED13L):c.2950C>A (p.Gln984Lys)
NM_015335.5(MED13L):c.2996+7A>G
NM_015335.5(MED13L):c.2997-159dup rs879503143
NM_015335.5(MED13L):c.3060A>C (p.Thr1020=)
NM_015335.5(MED13L):c.311-4dup rs150398214
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
NM_015335.5(MED13L):c.3630T>A (p.Pro1210=)
NM_015335.5(MED13L):c.3666C>T (p.Pro1222=)
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
NM_015335.5(MED13L):c.3756A>G (p.Gln1252=)
NM_015335.5(MED13L):c.3768T>C (p.Cys1256=)
NM_015335.5(MED13L):c.3847C>T (p.Arg1283Trp)
NM_015335.5(MED13L):c.4115-10G>C rs1031922673
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
NM_015335.5(MED13L):c.4478A>C (p.Asn1493Thr)
NM_015335.5(MED13L):c.4722A>C (p.Ala1574=)
NM_015335.5(MED13L):c.501C>T (p.Phe167=) rs1383072937
NM_015335.5(MED13L):c.5040C>T (p.Tyr1680=) rs1592913487
NM_015335.5(MED13L):c.5235A>G (p.Gln1745=)
NM_015335.5(MED13L):c.5365-22T>A rs374679380
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
NM_015335.5(MED13L):c.5973T>G (p.Ala1991=)
NM_015335.5(MED13L):c.60C>T (p.Asn20=) rs746193221
NM_015335.5(MED13L):c.6582C>T (p.Val2194=)
NM_015335.5(MED13L):c.690A>G (p.Pro230=) rs1592953981
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.