ClinVar Miner

List of variants in gene MED13L reported by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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Total variants: 6
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HGVS dbSNP
NM_015335.4(MED13L):c.1109_1110del (p.Pro370fs) rs1566011496
NM_015335.4(MED13L):c.626-2A>G rs1555249664
NM_015335.4(MED13L):c.73-1G>A rs1555225472
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs) rs1555244975
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)

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