List of variants in gene MED13L reported as likely pathogenic by GeneDx

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: 16

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 12q24.21(chr12:116497982-116534949)x1
NM_015335.5(MED13L):c.2281C>A (p.His761Asn)
NM_015335.5(MED13L):c.2605C>A (p.Pro869Thr)	rs1057524103
NM_015335.5(MED13L):c.2633C>T (p.Ser878Phe)	rs1064794939
NM_015335.5(MED13L):c.2636C>T (p.Pro879Leu)	rs1064795068
NM_015335.5(MED13L):c.3090_3093del (p.Ser1031fs)	rs1555245254
NM_015335.5(MED13L):c.43G>T (p.Glu15Ter)	rs1057520775
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)	rs1555243580
NM_015335.5(MED13L):c.4955G>A (p.Ser1652Asn)	rs2137273654
NM_015335.5(MED13L):c.5175G>T (p.Gln1725His)	rs1555243051
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg)	rs2137241977
NM_015335.5(MED13L):c.5785A>G (p.Lys1929Glu)	rs1064795586
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
NM_015335.5(MED13L):c.6461dup (p.His2155fs)	rs1592890905
NM_015335.5(MED13L):c.6509T>G (p.Leu2170Trp)
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)	rs1555239555

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