List of variants in gene MED13L reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala)	rs773833981	0.00003
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)	rs377611234	0.00003
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg)	rs772898348	0.00002
NM_015335.5(MED13L):c.3133C>T (p.Arg1045Cys)	rs1565997620
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)	rs1878068615
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter)	rs2137899543
NM_015335.5(MED13L):c.4452del (p.Phe1484fs)	rs1555243582
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs)	rs1555243059
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter)	rs2137223723

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