ClinVar Miner

List of variants in gene MED13L reported as pathogenic by Ambry Genetics

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Total variants: 12
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HGVS dbSNP
NM_015335.4(MED13L):c.1361C>G (p.Ser454Ter) rs1555248020
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.2239-2A>G rs1555247469
NM_015335.4(MED13L):c.6280C>A (p.Pro2094Thr) rs1555240376
NM_015335.4(MED13L):c.6331C>T (p.Gln2111Ter) rs1555240361
NM_015335.4(MED13L):c.6336G>A (p.Trp2112Ter) rs1555240359
NM_015335.4(MED13L):c.6418C>T (p.Gln2140Ter) rs1555239936
NM_015335.5(MED13L):c.293_294del (p.Ile98fs)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs)
NM_015335.5(MED13L):c.5365-1G>A
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)

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