List of variants in gene MED13L reported as pathogenic by Diagnostic Laboratory, Strasbourg University Hospital

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)	rs869025286
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)	rs1870211191
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)	rs1879042937
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)	rs1877697992
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)	rs1872666696
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)	rs886041448
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)	rs869025287

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