ClinVar Miner

List of variants in gene MED13L reported as pathogenic by GenomeConnect - Simons Searchlight

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Total variants: 17
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HGVS dbSNP
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
NM_015335.4(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.4(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.4(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.4(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.4(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.4(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.4(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.4(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4083del (p.Gln1361fs)
NM_015335.5(MED13L):c.4120del (p.Glu1374fs)
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs)
NM_015335.5(MED13L):c.6226-1G>C

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