ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic

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Gene type:
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Total variants: 108
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116321989-116681294)x3
GRCh37/hg19 12q24.21(chr12:116374312-116535323)
GRCh37/hg19 12q24.21(chr12:116417092-116639877)x3
GRCh37/hg19 12q24.21(chr12:116462247-116603459)x1
GRCh37/hg19 12q24.21(chr12:116472293-116558850)x2
GRCh37/hg19 12q24.21(chr12:116481670-116648914)x3
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
NM_015335.5(MED13L):c.1162_1166del (p.Arg388fs) rs2499931368
NM_015335.5(MED13L):c.1176-1G>A rs1566010195
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter) rs2137404791
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.5(MED13L):c.1704dup (p.Glu569fs) rs2499912315
NM_015335.5(MED13L):c.1A>T (p.Met1Leu) rs1131691818
NM_015335.5(MED13L):c.2013-1G>T rs778958638
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs) rs2499906615
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2239-11T>G rs2137373566
NM_015335.5(MED13L):c.2281C>A (p.His761Asn) rs2499901614
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.2345-1G>T
NM_015335.5(MED13L):c.2345-3C>G rs1592939069
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2591T>A (p.Met864Lys) rs1057520056
NM_015335.5(MED13L):c.2593T>C (p.Phe865Leu)
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile) rs1555246143
NM_015335.5(MED13L):c.2605C>A (p.Pro869Thr) rs1057524103
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser) rs1057524103
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu) rs1878458116
NM_015335.5(MED13L):c.2633C>T (p.Ser878Phe) rs1064794939
NM_015335.5(MED13L):c.2636C>T (p.Pro879Leu) rs1064795068
NM_015335.5(MED13L):c.2824C>T (p.Gln942Ter)
NM_015335.5(MED13L):c.2844del (p.Met949fs) rs35760315
NM_015335.5(MED13L):c.2996+1G>A rs1878413465
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs) rs2499858354
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs) rs1555245254
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter) rs2137307992
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs) rs1878068615
NM_015335.5(MED13L):c.3319del (p.His1107fs) rs2499857175
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs) rs2137306954
NM_015335.5(MED13L):c.3380del (p.Asn1127fs) rs2137306817
NM_015335.5(MED13L):c.338G>T (p.Gly113Val) rs2500383513
NM_015335.5(MED13L):c.3396C>A (p.Cys1132Ter)
NM_015335.5(MED13L):c.3409A>C (p.Asn1137His) rs1878060112
NM_015335.5(MED13L):c.3425G>A (p.Gly1142Glu) rs2499856777
NM_015335.5(MED13L):c.347A>G (p.Tyr116Cys)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871
NM_015335.5(MED13L):c.3487G>A (p.Gly1163Arg)
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs) rs2499855976
NM_015335.5(MED13L):c.374C>T (p.Ala125Val) rs2500383363
NM_015335.5(MED13L):c.392_395del (p.Glu131fs) rs1874072493
NM_015335.5(MED13L):c.3935-1G>A rs1565995146
NM_015335.5(MED13L):c.3935-2A>G rs1555244216
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4081C>T (p.Gln1361Ter)
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu) rs2499839762
NM_015335.5(MED13L):c.4203_4209del (p.Leu1401fs)
NM_015335.5(MED13L):c.4338+5G>A rs1877682848
NM_015335.5(MED13L):c.4353del (p.Gln1452fs) rs2137278830
NM_015335.5(MED13L):c.4358A>C (p.His1453Pro) rs2499831679
NM_015335.5(MED13L):c.43G>T (p.Glu15Ter) rs1057520775
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter) rs1555243580
NM_015335.5(MED13L):c.4670dup (p.Ala1558fs) rs1565993028
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter) rs2137274539
NM_015335.5(MED13L):c.4899dup (p.Gly1634fs) rs2499826159
NM_015335.5(MED13L):c.4955+1G>A rs2499825770
NM_015335.5(MED13L):c.4955G>A (p.Ser1652Asn) rs2137273654
NM_015335.5(MED13L):c.5033T>A (p.Val1678Asp) rs1555243099
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys) rs2499822871
NM_015335.5(MED13L):c.5175+1G>A rs2499822062
NM_015335.5(MED13L):c.5175G>T (p.Gln1725His) rs1555243051
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs) rs1877279397
NM_015335.5(MED13L):c.5364+1G>T rs2499815967
NM_015335.5(MED13L):c.5461C>T (p.Gln1821Ter)
NM_015335.5(MED13L):c.5586del (p.Asn1862fs) rs2499798316
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5614C>T (p.Arg1872Cys) rs1876857794
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs) rs1876855942
NM_015335.5(MED13L):c.5650A>C (p.Ile1884Leu) rs748101708
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg) rs2137241977
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln) rs2499796876
NM_015335.5(MED13L):c.5785A>G (p.Lys1929Glu) rs1064795586
NM_015335.5(MED13L):c.5950C>T (p.Gln1984Ter) rs1876522232
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.6022G>T (p.Ala2008Ser)
NM_015335.5(MED13L):c.6067+1G>A
NM_015335.5(MED13L):c.6076_6105dup
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser) rs1555240376
NM_015335.5(MED13L):c.6293G>C (p.Gly2098Ala)
NM_015335.5(MED13L):c.6426dup (p.Glu2143fs) rs2499947744
NM_015335.5(MED13L):c.6461dup (p.His2155fs) rs1592890905
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137
NM_015335.5(MED13L):c.6501-2del rs2499941147
NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp) rs2499941131
NM_015335.5(MED13L):c.652G>A (p.Gly218Arg) rs546865056
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter) rs1555239555
NM_015335.5(MED13L):c.6583C>T (p.His2195Tyr) rs2137182061
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter) rs1879951118
NM_015335.5(MED13L):c.746dup (p.Lys250fs) rs1566014158
NM_015335.5(MED13L):c.758del (p.Glu252_Ser253insTer)
NM_015335.5(MED13L):c.82dup (p.Thr28fs) rs1870221353
NM_015335.5(MED13L):c.889_890del (p.Ser297fs) rs2499943809
NM_015335.5(MED13L):c.987del (p.Ser330fs) rs2499943377
NM_015335.5(MED13L):c.995A>G (p.Glu332Gly) rs1440142042

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