List of variants in gene MED13L reported as pathogenic by Ambry Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter)	rs1555248020
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter)	rs1555247936
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs)	rs1555247853
NM_015335.5(MED13L):c.2239-2A>G	rs1555247469
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer)
NM_015335.5(MED13L):c.293_294del (p.Ile98fs)	rs1870200055
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs)
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs)	rs1877448690
NM_015335.5(MED13L):c.5365-1G>A	rs1876893450
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)	rs1876629983
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr)	rs1555240376
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter)	rs1555240361
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter)	rs1555240359
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter)	rs1555239936

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