List of variants in gene MED13L reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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.1338_1341dup (p.Gly448fs)	rs1555248025
NM_015335.5(MED13L):c.1A>T (p.Met1Leu)	rs1131691818
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)	rs1592940794
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)	rs2137307992
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile)	rs1592923871
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs)	rs1555244212
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter)	rs1555241166

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