ClinVar Miner

List of variants in gene MED13L reported as pathogenic by Laboratory of Human Genetics, Universidade de São Paulo

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.2318del (p.Ser773fs) rs1879044510
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) rs1877535811

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