List of variants studied for Mitochondrial trifunctional protein deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000183.3(HADHB):c.1289T>C (p.Phe430Ser)	rs375329638	0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	rs769580842	0.00003
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	rs137852771	0.00002
NM_000183.3(HADHB):c.1165A>G (p.Asn389Asp)	rs1023807527	0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)	rs780351691	0.00001
NM_000183.3(HADHB):c.255-2A>G	rs1220650950	0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)	rs147103714
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	rs868816467
NM_000183.3(HADHB):c.1175C>T (p.Ala392Val)	rs764623179
NM_000183.3(HADHB):c.1364T>G (p.Val455Gly)	rs267606859
NM_000183.3(HADHB):c.811+1G>A

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.