ClinVar Miner

List of variants in gene MED13L reported as uncertain significance for developmental defect during embryogenesis

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val) rs775442091 0.00010
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly) rs1332032276 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) rs781324695 0.00001
NM_015335.5(MED13L):c.2330C>G (p.Ser777Cys) rs1879044151 0.00001
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val) rs773730403 0.00001
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met) rs775807063 0.00001
NM_015335.5(MED13L):c.4114+2T>A rs1393295692 0.00001
NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr) rs752521430 0.00001
NM_015335.5(MED13L):c.4693A>C (p.Thr1565Pro) rs1261763875 0.00001
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg) rs369933421 0.00001
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu) rs774432060 0.00001
NM_015335.4(MED13L):c.5996_5998delinsGTA (p.Phe1999_Pro2000delinsCysThr) rs1555241160
NM_015335.5(MED13L):c.1010G>A (p.Gly337Asp)
NM_015335.5(MED13L):c.1042C>T (p.His348Tyr)
NM_015335.5(MED13L):c.1067T>G (p.Met356Arg)
NM_015335.5(MED13L):c.1141T>C (p.Trp381Arg)
NM_015335.5(MED13L):c.1175+20T>C rs1879642923
NM_015335.5(MED13L):c.1267T>G (p.Cys423Gly)
NM_015335.5(MED13L):c.1274G>C (p.Cys425Ser)
NM_015335.5(MED13L):c.1656A>G (p.Ile552Met) rs746110094
NM_015335.5(MED13L):c.1745T>C (p.Leu582Pro)
NM_015335.5(MED13L):c.2013-1G>T
NM_015335.5(MED13L):c.2061G>T (p.Gln687His) rs770538291
NM_015335.5(MED13L):c.2114C>G (p.Pro705Arg) rs2137378723
NM_015335.5(MED13L):c.217C>T (p.Arg73Cys)
NM_015335.5(MED13L):c.2227A>C (p.Lys743Gln)
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu) rs368050346
NM_015335.5(MED13L):c.227T>C (p.Val76Ala)
NM_015335.5(MED13L):c.2363C>T (p.Ala788Val) rs1299165203
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2598C>T (p.Pro866=)
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala) rs2137330781
NM_015335.5(MED13L):c.2929G>A (p.Ala977Thr)
NM_015335.5(MED13L):c.2952A>G (p.Gln984=)
NM_015335.5(MED13L):c.2983A>G (p.Arg995Gly)
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly) rs1878087235
NM_015335.5(MED13L):c.3033C>G (p.Asp1011Glu) rs1878087028
NM_015335.5(MED13L):c.3524A>G (p.Asn1175Ser)
NM_015335.5(MED13L):c.3718C>G (p.Leu1240Val) rs777146447
NM_015335.5(MED13L):c.3828T>A (p.Phe1276Leu)
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.404T>C (p.Met135Thr) rs752482619
NM_015335.5(MED13L):c.4086C>T (p.Phe1362=)
NM_015335.5(MED13L):c.4183A>G (p.Thr1395Ala)
NM_015335.5(MED13L):c.4190C>T (p.Ser1397Leu) rs2137287209
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) rs1363042572
NM_015335.5(MED13L):c.4373A>G (p.Lys1458Arg)
NM_015335.5(MED13L):c.4386C>A (p.Asp1462Glu)
NM_015335.5(MED13L):c.443G>A (p.Arg148Gln) rs1461395322
NM_015335.5(MED13L):c.4537T>C (p.Tyr1513His)
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr) rs2137275405
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr) rs748040838
NM_015335.5(MED13L):c.4789A>G (p.Ser1597Gly) rs2137274550
NM_015335.5(MED13L):c.478A>G (p.Ser160Gly)
NM_015335.5(MED13L):c.47A>G (p.Asp16Gly)
NM_015335.5(MED13L):c.4950A>C (p.Gln1650His)
NM_015335.5(MED13L):c.5057C>T (p.Thr1686Met) rs1877397719
NM_015335.5(MED13L):c.5119T>C (p.Tyr1707His) rs1877392834
NM_015335.5(MED13L):c.5194A>G (p.Met1732Val)
NM_015335.5(MED13L):c.5383C>G (p.Leu1795Val) rs750257495
NM_015335.5(MED13L):c.539G>C (p.Ser180Thr)
NM_015335.5(MED13L):c.5625_5630del (p.Leu1876_Gln1877del) rs1876856419
NM_015335.5(MED13L):c.5659G>A (p.Val1887Ile) rs201002721
NM_015335.5(MED13L):c.5737A>T (p.Ser1913Cys)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.5904G>A (p.Met1968Ile) rs2137223825
NM_015335.5(MED13L):c.5978G>A (p.Cys1993Tyr) rs2137223521
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)
NM_015335.5(MED13L):c.610C>G (p.Pro204Ala)
NM_015335.5(MED13L):c.6151C>T (p.Pro2051Ser) rs2137216697
NM_015335.5(MED13L):c.6155A>C (p.Asn2052Thr) rs766487372
NM_015335.5(MED13L):c.6184C>T (p.Pro2062Ser)
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) rs1876147349
NM_015335.5(MED13L):c.6356A>G (p.Gln2119Arg)
NM_015335.5(MED13L):c.6577C>A (p.Pro2193Thr) rs2137182119
NM_015335.5(MED13L):c.6626T>C (p.Ile2209Thr)
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.799G>A (p.Val267Met)
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
NM_015335.5(MED13L):c.898A>T (p.Ser300Cys)
NM_015335.5(MED13L):c.970C>T (p.Pro324Ser) rs1183900324

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.