ClinVar Miner

List of variants in gene MED13L reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116064267-116750726)x1
GRCh37/hg19 12q24.21(chr12:116443463-116457804)x1
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
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(chr12:116484240-116564043)
GRCh37/hg19 12q24.21(chr12:116503127-116558092)x1
GRCh37/hg19 12q24.21(chr12:116523800-116581474)
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
GRCh37/hg19 12q24.21(chr12:116534474-116549317)x1
GRCh37/hg19 12q24.21(chr12:116535307-116557569)x1
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh37/hg19 12q24.21(chr12:116693044-116725907)x1
GRCh38/hg38 12q24.21(chr12:115996285-116022906)x3
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NC_000012.11:g.(116460407_116534473)_(116549318_116675272)del
NC_000012.11:g.(?_116418535)_(116420428_?)del
NC_000012.11:g.(?_116440808)_(116440907_?)del
NC_000012.11:g.(?_116534454)_(116549337_?)del
NC_000012.11:g.(?_116534474)_(116675510_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NC_000012.12:g.(?_115982183)_(116022795_?)del
NC_000012.12:g.115991433_115991435delinsA rs1565997261
NC_000012.12:g.116022564_116022565delinsAT rs1555250044
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
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.1135C>T (p.Arg379Ter) rs2499931468
NM_015335.5(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.1250dup (p.Thr418fs)
NM_015335.5(MED13L):c.1280+1G>A rs2499924697
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.1361C>G (p.Ser454Ter) rs1555248020
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) rs2137386388
NM_015335.5(MED13L):c.1420G>T (p.Glu474Ter) rs1879225327
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter) rs2499913247
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.1516C>T (p.Gln506Ter) rs2137385850
NM_015335.5(MED13L):c.1684C>T (p.Gln562Ter) rs2137385115
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter) rs1870211191
NM_015335.5(MED13L):c.1744del (p.Leu582fs) rs2499912120
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs) rs1879198833
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1971del (p.Asp657fs) rs1555247805
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.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter) rs2137378964
NM_015335.5(MED13L):c.2090_2091insGAGCCACT (p.Asp697fs) rs1879125566
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter) rs2499906294
NM_015335.5(MED13L):c.215G>A (p.Trp72Ter)
NM_015335.5(MED13L):c.2239-2A>G rs1555247469
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.5(MED13L):c.2318del (p.Ser773fs) rs1879044510
NM_015335.5(MED13L):c.2320del (p.Ile774fs) rs2137373056
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs) rs1879042937
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.5(MED13L):c.2504del (p.Pro835fs) rs1555246952
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.2584C>T (p.Gln862Ter) rs2499875454
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.2606C>T (p.Pro869Leu) rs1878458116
NM_015335.5(MED13L):c.2636del (p.Pro879fs)
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) rs1870202051
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer) rs2499874839
NM_015335.5(MED13L):c.2779_2782dup (p.Glu928fs)
NM_015335.5(MED13L):c.278del (p.Asn93fs) rs2500016820
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.293_294del (p.Ile98fs) rs1870200055
NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter) rs1376289620
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.311-1G>A rs1219697193
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) rs2137307992
NM_015335.5(MED13L):c.3191dup (p.Thr1065fs)
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) rs2137307819
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) rs2137899543
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) rs2137307119
NM_015335.5(MED13L):c.3381del (p.Phe1128fs) rs2499856919
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer) rs2499856913
NM_015335.5(MED13L):c.3385_3391delinsAAA (p.Asp1129fs)
NM_015335.5(MED13L):c.3459del (p.Asn1154fs) rs2499856672
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs) rs2499856135
NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs) rs2137305263
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.3779del (p.Ser1260fs) rs2499855262
NM_015335.5(MED13L):c.379del (p.His127fs)
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.3961C>T (p.Gln1321Ter) rs2499842872
NM_015335.5(MED13L):c.4003C>T (p.Gln1335Ter)
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs) rs2499842648
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
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.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) rs1877748039
NM_015335.5(MED13L):c.4087del (p.His1363fs) rs2499842382
NM_015335.5(MED13L):c.4108_4114+3del rs2499842261
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter) rs1877697992
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter) rs2499839774
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) rs1877685759
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.4417C>T (p.Gln1473Ter) rs1877535811
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter) rs1872666696
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.5(MED13L):c.4467_4473del (p.Ser1489fs) rs1877531485
NM_015335.5(MED13L):c.4471G>T (p.Glu1491Ter)
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer) rs2499827975
NM_015335.5(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.5(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.5(MED13L):c.4622del (p.Thr1541fs) rs1877476585
NM_015335.5(MED13L):c.4715del (p.Asn1572fs) rs2499827000
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter) rs2500281214
NM_015335.5(MED13L):c.480-1G>T rs869025288
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter) rs1877459454
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs) rs1877448690
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5000_5001del (p.Ser1667fs)
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn) rs2499823119
NM_015335.5(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) rs2137264830
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5285del (p.Leu1762fs) rs886043314
NM_015335.5(MED13L):c.5364+1dup rs1877270718
NM_015335.5(MED13L):c.5365-1G>A rs1876893450
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) rs2137446876
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5471del (p.Asn1824fs) rs2499798910
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.553C>T (p.Gln185Ter) rs2137446910
NM_015335.5(MED13L):c.5545G>T (p.Glu1849Ter)
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5589-1G>A rs1064796543
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5751_5752insTACTACA (p.Glu1918fs)
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs) rs2499974537
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.5818del (p.Ala1940fs) rs2499974370
NM_015335.5(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.5(MED13L):c.5920C>T (p.Arg1974Ter) rs2499969945
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) rs2137223723
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs) rs869025289
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs) rs2499969575
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.5(MED13L):c.6039del (p.Asn2014fs) rs2499969554
NM_015335.5(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.5(MED13L):c.607dup (p.Ser203fs) rs869025291
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.5(MED13L):c.6164del (p.Pro2055fs) rs2499964381
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs) rs2137216530
NM_015335.5(MED13L):c.6226-1G>C rs1876150289
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs) rs2499956505
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs) rs2499956501
NM_015335.5(MED13L):c.626-1_626dup rs2499946313
NM_015335.5(MED13L):c.626-2A>G rs1555249664
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.5(MED13L):c.6274C>G (p.Gln2092Glu) rs1876147349
NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter) rs2499956371
NM_015335.5(MED13L):c.627dup (p.Leu210fs) rs1879959408
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser) rs1555240376
NM_015335.5(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.5(MED13L):c.6331del (p.Gln2111fs) rs2499956196
NM_015335.5(MED13L):c.6335G>A (p.Trp2112Ter) rs2499956168
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.5(MED13L):c.6367C>T (p.Gln2123Ter) rs1876139497
NM_015335.5(MED13L):c.6372C>A (p.Cys2124Ter)
NM_015335.5(MED13L):c.6388-2A>G rs1592891007
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.5(MED13L):c.6427G>T (p.Glu2143Ter)
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.712G>T (p.Glu238Ter) rs1879953298
NM_015335.5(MED13L):c.73-1G>A rs1555225472
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.760_1175+967del
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.864_865del (p.Gln289fs)
NM_015335.5(MED13L):c.878del (p.Pro293fs) rs1555249561
t(12;19)(q24.21;q12)

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