List of variants studied for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Department of Endocrinology, Metabolism and Genetics, Henan Children's Hospital, Children's Hospital Affiliated to Zhengzhou University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	rs370058829	0.00008
NM_005518.4(HMGCS2):c.1017-2A>G	rs111313628	0.00001
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)	rs779321975
NM_005518.4(HMGCS2):c.220G>A (p.Glu74Lys)	rs587688416
NM_005518.4(HMGCS2):c.39dup (p.Leu14fs)	rs2101283660
NM_005518.4(HMGCS2):c.407A>G (p.Asp136Gly)	rs2101273359
NM_005518.4(HMGCS2):c.422T>A (p.Val141Asp)	rs1406920400
NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter)	rs1652955748
NM_005518.4(HMGCS2):c.719A>C (p.Asp240Ala)	rs762211049
NM_005518.4(HMGCS2):c.788del (p.Leu263fs)	rs2101262353

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.