List of variants in gene MED13L reported as likely pathogenic by 3billion

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter)	rs2137404791
NM_015335.5(MED13L):c.2239-11T>G	rs2137373566
NM_015335.5(MED13L):c.2345-1G>T
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)	rs1555246145
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs)	rs2137306954
NM_015335.5(MED13L):c.3380del (p.Asn1127fs)	rs2137306817
NM_015335.5(MED13L):c.4081C>T (p.Gln1361Ter)
NM_015335.5(MED13L):c.4203_4209del (p.Leu1401fs)
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)	rs2499943809

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