ClinVar Miner

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

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Gene type:
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Total variants: 76
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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.1135C>T (p.Arg379Ter)
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.2584C>T (p.Gln862Ter)
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.3385_3391delinsAAA (p.Asp1129fs)
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.4471G>T (p.Glu1491Ter)
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.5000_5001del (p.Ser1667fs)
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

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