ClinVar Miner

List of variants in gene MED13L reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 50
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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.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.*285T>C rs182172437 0.00330
NM_015335.5(MED13L):c.5891-284G>A rs531165588 0.00297
NM_015335.5(MED13L):c.2570-107C>T rs771532250 0.00192
NM_015335.5(MED13L):c.5365-135A>G rs184714402 0.00113
NM_015335.5(MED13L):c.73-7T>C rs199550041 0.00048
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.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.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.2292G>A (p.Pro764=) rs754150111 0.00011
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr) rs757625355 0.00011
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
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.6348G>A (p.Ser2116=) rs769874135 0.00006
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.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.2470-13C>T rs757038374 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.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.1010-4dup rs771044608
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.2950C>A (p.Gln984Lys)
NM_015335.5(MED13L):c.2997-159dup rs879503143
NM_015335.5(MED13L):c.5365-22T>A rs374679380
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929

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