ClinVar Miner

List of variants in gene MED13L studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
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.969G>A (p.Met323Ile) rs141207031 0.00017
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile) rs182752795 0.00011
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln) rs374506267 0.00006
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) rs377207761 0.00003
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe) rs372595490 0.00002
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser) rs763491465 0.00002
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 0.00001
NM_015335.5(MED13L):c.3606G>A (p.Met1202Ile) rs752751372 0.00001
NM_015335.5(MED13L):c.4468G>A (p.Gly1490Ser) rs749956782 0.00001
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile) rs140287114 0.00001
NM_015335.5(MED13L):c.1094C>T (p.Ser365Leu)
NM_015335.5(MED13L):c.1338A>C (p.Gln446His)
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1645C>A (p.His549Asn)
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu)
NM_015335.5(MED13L):c.2122A>G (p.Ser708Gly)
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys)
NM_015335.5(MED13L):c.2239-2A>G rs1555247469
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu)
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
NM_015335.5(MED13L):c.2479C>T (p.Pro827Ser)
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) rs1057524103
NM_015335.5(MED13L):c.2674G>C (p.Val892Leu)
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer)
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
NM_015335.5(MED13L):c.293_294del (p.Ile98fs) rs1870200055
NM_015335.5(MED13L):c.3229A>G (p.Thr1077Ala)
NM_015335.5(MED13L):c.3523A>G (p.Asn1175Asp)
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs)
NM_015335.5(MED13L):c.3689A>G (p.Gln1230Arg) rs1878042874
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu)
NM_015335.5(MED13L):c.3802A>G (p.Asn1268Asp)
NM_015335.5(MED13L):c.3881T>A (p.Val1294Glu)
NM_015335.5(MED13L):c.3932A>G (p.Asn1311Ser)
NM_015335.5(MED13L):c.3935-2A>G rs1555244216
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4147C>T (p.Pro1383Ser)
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.4495C>T (p.Leu1499Phe)
NM_015335.5(MED13L):c.4621A>C (p.Thr1541Pro)
NM_015335.5(MED13L):c.4670C>G (p.Pro1557Arg)
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe)
NM_015335.5(MED13L):c.4784G>A (p.Gly1595Asp)
NM_015335.5(MED13L):c.4817G>A (p.Gly1606Glu)
NM_015335.5(MED13L):c.4867G>T (p.Ala1623Ser)
NM_015335.5(MED13L):c.4873A>G (p.Arg1625Gly)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs) rs1877448690
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
NM_015335.5(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.5(MED13L):c.5365-1G>A rs1876893450
NM_015335.5(MED13L):c.5371A>G (p.Ser1791Gly)
NM_015335.5(MED13L):c.5489A>G (p.Tyr1830Cys)
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
NM_015335.5(MED13L):c.5603A>G (p.Lys1868Arg)
NM_015335.5(MED13L):c.565A>C (p.Ile189Leu)
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.5827C>A (p.Pro1943Thr) rs1555241424
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944
NM_015335.5(MED13L):c.6079G>T (p.Val2027Phe) rs1876393490
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.5(MED13L):c.850T>A (p.Phe284Ile)
NM_015335.5(MED13L):c.92A>G (p.Lys31Arg)
NM_015335.5(MED13L):c.986C>T (p.Thr329Ile)

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.