ClinVar Miner

List of variants in gene MED13L reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter)	rs139063441
NM_015335.5(MED13L):c.57del (p.Asn20fs)
NM_015335.5(MED13L):c.760_1175+967del

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