List of variants in gene MED13L reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.1108_1111dup (p.Lys371fs)	rs2137415111
NM_015335.5(MED13L):c.1852dup (p.Tyr618fs)	rs1879198833
NM_015335.5(MED13L):c.627dup (p.Leu210fs)	rs1879959408
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)	rs869312707
NM_015335.5(MED13L):c.82dup (p.Thr28fs)	rs1870221353

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