ClinVar Miner

List of variants in gene MED13L reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
GRCh37/hg19 12q24.21(chr12:116448190-116603459)x3
GRCh37/hg19 12q24.21(chr12:116456529-116488520)x1
GRCh37/hg19 12q24.21(chr12:116481669-116569556)x1
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
NM_015335.5(MED13L):c.1108_1111dup (p.Lys371fs) rs2137415111
NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs) rs1566011496
NM_015335.5(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.5(MED13L):c.1280+1G>A
NM_015335.5(MED13L):c.1318C>T (p.Arg440Ter) rs1205283728
NM_015335.5(MED13L):c.1336C>T (p.Gln446Ter) rs886041503
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter) rs1879225327
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) rs2137385115
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs) rs1879198833
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1992dup (p.Glu665fs) rs1057518424
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.2930C>T (p.Ala977Val) rs1131691671
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.311-1G>A
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.3961C>T (p.Gln1321Ter)
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4051C>T (p.Gln1351Ter) rs1057524341
NM_015335.5(MED13L):c.4060C>T (p.Gln1354Ter) rs1565995054
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4387G>A (p.Gly1463Arg) rs1555243607
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) rs1872666696
NM_015335.5(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter) rs1877459454
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5471del (p.Asn1824fs)
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter) rs2137446910
NM_015335.5(MED13L):c.5589-1G>A rs1064796543
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.5(MED13L):c.5920C>T (p.Arg1974Ter)
NM_015335.5(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.5(MED13L):c.6164del (p.Pro2055fs)
NM_015335.5(MED13L):c.626-1_626dup
NM_015335.5(MED13L):c.626-2A>G rs1555249664
NM_015335.5(MED13L):c.627dup (p.Leu210fs) rs1879959408
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter) rs1876139497
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.5(MED13L):c.73-1G>A rs1555225472
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.878del (p.Pro293fs) rs1555249561

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.