ClinVar Miner

List of variants in gene MED13L reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 7
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HGVS dbSNP
NM_015335.4(MED13L):c.1338_1341dup (p.Gly448fs) rs1555248025
NM_015335.4(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.4(MED13L):c.3942_3943del (p.Ile1315fs) rs1555244212
NM_015335.4(MED13L):c.5965C>T (p.Gln1989Ter) rs1555241166
NM_015335.5(MED13L):c.1A>T (p.Met1Leu)
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile) rs1592923871

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