ClinVar Miner

List of variants in gene MED13L reported as pathogenic by GeneDx

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Total variants: 30
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HGVS dbSNP
GRCh38/hg38 12q24.21(chr12:116019418-116054358)x1
NM_015335.4(MED13L):c.1186del (p.Met396fs) rs1064794013
NM_015335.4(MED13L):c.1336C>T (p.Gln446Ter) rs886041503
NM_015335.4(MED13L):c.1992dup (p.Glu665fs) rs1057518424
NM_015335.4(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.4(MED13L):c.2524C>T (p.Arg842Ter) rs1064793483
NM_015335.4(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.4(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.4(MED13L):c.4051C>T (p.Gln1351Ter) rs1057524341
NM_015335.4(MED13L):c.4060C>T (p.Gln1354Ter) rs1565995054
NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.4(MED13L):c.4577del (p.Pro1526fs) rs1057518262
NM_015335.4(MED13L):c.4609C>T (p.Gln1537Ter) rs1555243400
NM_015335.4(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.4(MED13L):c.5083dup (p.Ser1695fs) rs1555243086
NM_015335.4(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.4(MED13L):c.5589-1G>A rs1064796543
NM_015335.4(MED13L):c.5866C>T (p.Gln1956Ter) rs1565985681
NM_015335.4(MED13L):c.6073dup (p.Met2025fs) rs1131691386
NM_015335.4(MED13L):c.6284dup (p.Ala2096fs) rs886041624
NM_015335.4(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.4(MED13L):c.878del (p.Pro293fs) rs1555249561
NM_015335.5(MED13L):c.1941_1948del (p.Pro648fs) rs1592941857
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.34del (p.Ala12fs) rs1593238375
NM_015335.5(MED13L):c.401dup (p.Met135fs) rs1593039493
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4412_4413del (p.Val1471fs) rs1592915896

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