List of variants in gene MED13L reported as pathogenic by OMIM

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
NC_000012.12:g.(?_115982183)_(116022795_?)del
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)	rs869025286
NM_015335.5(MED13L):c.3765del (p.Cys1256fs)	rs147976828
NM_015335.5(MED13L):c.480-1G>T	rs869025288
NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs)	rs869025289
NM_015335.5(MED13L):c.607dup (p.Ser203fs)	rs869025291
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)	rs869025287
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)	rs28940309

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