List of variants in gene MED13L reported as pathogenic by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.1109_1110del (p.Pro370fs)	rs1566011496
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)	rs2137378964
NM_015335.5(MED13L):c.2950C>T (p.Gln984Ter)	rs1376289620
NM_015335.5(MED13L):c.3760_3761del (p.Leu1254fs)	rs2137305263
NM_015335.5(MED13L):c.3911_3912del (p.Val1304fs)	rs1555244975
NM_015335.5(MED13L):c.4814C>G (p.Ser1605Ter)	rs1877459454
NM_015335.5(MED13L):c.626-2A>G	rs1555249664
NM_015335.5(MED13L):c.73-1G>A	rs1555225472

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