ClinVar Miner

List of variants in gene MED13L reported as benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 205
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.2469+211T>C rs10774844 0.98349
NM_015335.5(MED13L):c.5731+54A>G rs1992069 0.92737
NM_015335.5(MED13L):c.5731+55T>A rs1992068 0.92734
NM_015335.5(MED13L):c.4114+249T>C rs2241768 0.45292
NM_015335.5(MED13L):c.5176-274G>A rs73196099 0.25457
NM_015335.5(MED13L):c.5365-330A>T rs56295994 0.21552
NM_015335.5(MED13L):c.2997-139A>C rs3741767 0.18946
NM_015335.5(MED13L):c.5364+182A>G rs12422761 0.18735
NM_015335.5(MED13L):c.73-179G>C rs17498914 0.16803
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.14937
NM_015335.5(MED13L):c.6067+142T>A rs1344863 0.14928
NM_015335.5(MED13L):c.4956-40A>G rs56159580 0.14237
NM_015335.5(MED13L):c.2013-7C>T rs199749418 0.12825
NM_015335.5(MED13L):c.2013-9G>T rs200367922 0.10199
NM_015335.5(MED13L):c.1176-212A>C rs11067877 0.09655
NM_015335.5(MED13L):c.1280+138T>C rs3764954 0.09612
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.2570-334C>T rs147946489 0.04657
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03424
NM_015335.5(MED13L):c.4956-71del rs57452298 0.01975
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.1009+12C>G rs113214439 0.00872
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=) rs78561507 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) rs114269768 0.00638
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00444
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00295
NM_015335.5(MED13L):c.1095G>A (p.Ser365=) rs144327790 0.00284
NM_015335.5(MED13L):c.1010-32A>G rs371607017 0.00262
NM_015335.5(MED13L):c.5891-42G>C rs141073828 0.00235
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.4338+22T>C rs373430724 0.00205
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.2013-2A>T rs745395440 0.00146
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) rs75575870 0.00136
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.5365-13G>A rs187309577 0.00119
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00116
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.5176-33G>T rs564990311 0.00069
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00061
NM_015335.5(MED13L):c.2013-5T>C rs372464585 0.00059
NM_015335.5(MED13L):c.4956-50C>T rs367828106 0.00054
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183 0.00044
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.2997-27C>T rs199823264 0.00037
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) rs556713164 0.00035
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_015335.5(MED13L):c.4532-49G>A rs371940656 0.00034
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00034
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.5502C>T (p.His1834=) rs200440551 0.00024
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015335.5(MED13L):c.2145A>G (p.Pro715=) rs565179910 0.00015
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=) rs573917510 0.00011
NM_015335.5(MED13L):c.*11A>G rs199672295 0.00010
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00010
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
NM_015335.5(MED13L):c.2012+47G>C rs201563492 0.00009
NM_015335.5(MED13L):c.2013-45T>C rs774788667 0.00009
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015335.5(MED13L):c.5890+11T>G rs138264591 0.00008
NM_015335.5(MED13L):c.73-45G>C rs768244395 0.00008
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=) rs753776073 0.00006
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166 0.00006
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00004
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287 0.00004
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala) rs373887964 0.00004
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) rs376059806 0.00003
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) rs377207761 0.00003
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala) rs769509528 0.00003
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) rs142574863 0.00003
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=) rs542711978 0.00003
NM_015335.5(MED13L):c.395+26G>A rs367910902 0.00003
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile) rs377611234 0.00003
NM_015335.5(MED13L):c.72+10C>T rs779448093 0.00003
NM_015335.5(MED13L):c.1280+44C>T rs373042571 0.00002
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) rs780149328 0.00002
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=) rs74757206 0.00002
NM_015335.5(MED13L):c.1175+5G>A rs567368642 0.00001
NM_015335.5(MED13L):c.1601G>T (p.Arg534Ile) rs775387694 0.00001
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys) rs375719087 0.00001
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) rs750422287 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 0.00001
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys) rs773315749 0.00001
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) rs775015157 0.00001
GRCh37/hg19 12q24.21(chr12:116498873-116536921)x1
GRCh37/hg19 12q24.21(chr12:116498873-116621185)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
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser)
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile)
NM_015335.5(MED13L):c.1176-3T>C
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro)
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile)
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val)
NM_015335.5(MED13L):c.1650C>G (p.Ser550=)
NM_015335.5(MED13L):c.166A>G (p.Ile56Val)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
NM_015335.5(MED13L):c.1803C>T (p.Leu601=)
NM_015335.5(MED13L):c.1839C>T (p.Ser613=)
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-10del rs542425590
NM_015335.5(MED13L):c.2013-29_2013-27dup rs542425590
NM_015335.5(MED13L):c.2013-29_2013-28dup rs542425590
NM_015335.5(MED13L):c.2013-29dup rs542425590
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu)
NM_015335.5(MED13L):c.211G>A (p.Val71Ile)
NM_015335.5(MED13L):c.2289G>T (p.Thr763=)
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg)
NM_015335.5(MED13L):c.2470-15A>G
NM_015335.5(MED13L):c.2470-20A>G
NM_015335.5(MED13L):c.2570-74T>A rs11067873
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr)
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala)
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
NM_015335.5(MED13L):c.2868G>A (p.Leu956=)
NM_015335.5(MED13L):c.2997-11T>G
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=)
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala)
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu)
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr)
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val)
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys)
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=)
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys)
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=)
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=)
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly)
NM_015335.5(MED13L):c.4339-9T>C
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His)
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr)
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser)
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr)
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=)
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val)
NM_015335.5(MED13L):c.4956-11TC[3]
NM_015335.5(MED13L):c.5175+21T>A rs145094432
NM_015335.5(MED13L):c.5176-17dup rs138808854
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=)
NM_015335.5(MED13L):c.5365-22T>C rs374679380
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=)
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=)
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
NM_015335.5(MED13L):c.593A>C (p.His198Pro) rs764593997
NM_015335.5(MED13L):c.6068-17del
NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)
NM_015335.5(MED13L):c.626-27A>C rs11611238
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.5(MED13L):c.6387+4G>C
NM_015335.5(MED13L):c.6388-7dup rs753004245
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)
NM_015335.5(MED13L):c.72+27G>C rs751073934
NM_015335.5(MED13L):c.72+41dup rs377558672
NM_015335.5(MED13L):c.72+42G>C rs765021303
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929
NM_015335.5(MED13L):c.73-5del rs1593196291
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu)
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117

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.