List of variants in gene MED13L reported as pathogenic by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs)	rs1555247800
NM_015335.5(MED13L):c.2636del (p.Pro879fs)
NM_015335.5(MED13L):c.278del (p.Asn93fs)	rs2500016820
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter)	rs2137307819
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)	rs2499856913
NM_015335.5(MED13L):c.4087del (p.His1363fs)	rs2499842382
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)	rs2499827975
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)	rs886041448
NM_015335.5(MED13L):c.5364+1dup	rs1877270718
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)	rs2499969575
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)	rs2499969554
NM_015335.5(MED13L):c.6277C>T (p.Gln2093Ter)	rs2499956371

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