ClinVar Miner

List of variants in gene MED13L reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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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 0.25650
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 0.17152
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.15213
NM_015335.5(MED13L):c.6067+142T>A rs1344863 0.15201
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
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.1280+138T>C rs3764954 0.09799
NM_015335.5(MED13L):c.1176-212A>C rs11067877 0.09655
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_015335.5(MED13L):c.2570-334C>T rs147946489 0.04327
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03209
NM_015335.5(MED13L):c.4956-71del rs57452298 0.01975
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.4744T>A (p.Ser1582Thr) rs150222863 0.00806
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) rs114269768 0.00591
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00391
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.1095G>A (p.Ser365=) rs144327790 0.00284
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00273
NM_015335.5(MED13L):c.1010-32A>G rs371607017 0.00242
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.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4338+22T>C rs373430724 0.00179
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.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr) rs75575870 0.00125
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00107
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00105
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00074
NM_015335.5(MED13L):c.5176-33G>T rs564990311 0.00069
NM_015335.5(MED13L):c.2013-5T>C rs372464585 0.00059
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00056
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00056
NM_015335.5(MED13L):c.4956-50C>T rs367828106 0.00055
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00054
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00048
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 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.5809A>C (p.Ile1937Leu) rs143602183 0.00038
NM_015335.5(MED13L):c.2997-27C>T rs199823264 0.00034
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4532-49G>A rs371940656 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.1877C>T (p.Pro626Leu) rs186297695 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00021
NM_015335.5(MED13L):c.1124A>G (p.His375Arg) rs376059806 0.00016
NM_015335.5(MED13L):c.395+26G>A rs367910902 0.00014
NM_015335.5(MED13L):c.2012+47G>C rs201563492 0.00013
NM_015335.5(MED13L):c.*11A>G rs199672295 0.00010
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.2013-45T>C rs774788667 0.00008
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00007
NM_015335.5(MED13L):c.73-45G>C rs768244395 0.00007
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle) rs556713164 0.00006
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys) rs530432287 0.00004
NM_015335.5(MED13L):c.2145A>G (p.Pro715=) rs565179910 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.1280+44C>T rs373042571 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.1970A>T (p.Asp657Val) rs775442091 0.00001
NM_015335.5(MED13L):c.72+10C>T rs779448093 0.00001
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00001
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
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.2570-74T>A rs11067873
NM_015335.5(MED13L):c.5175+21T>A rs145094432
NM_015335.5(MED13L):c.5365-22T>C rs374679380
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile) rs554093251
NM_015335.5(MED13L):c.626-27A>C rs11611238
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

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