ClinVar Miner

List of variants in gene MED13L reported by Génétique des Maladies du Développement, Hospices Civils de Lyon

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu) rs1565981137

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