ClinVar Miner

List of variants in gene MED13L reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
NC_000012.12:g.(?_115982183)_(116022795_?)del
NM_015335.4(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.4(MED13L):c.480-1G>T rs869025288
NM_015335.4(MED13L):c.5615G>A (p.Arg1872His) rs28940310
NM_015335.4(MED13L):c.6068A>G (p.Asp2023Gly) rs121918333
NM_015335.4(MED13L):c.607dup (p.Ser203fs) rs869025291
NM_015335.4(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.4(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs) rs869025289

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