List of variants reported as uncertain significance for Cardiomyopathy-hypotonia-lactic acidosis syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002635.4(SLC25A3):c.*255T>G	rs540509043	0.00205
NM_002635.4(SLC25A3):c.*254A>G	rs777877584	0.00008
NM_002635.4(SLC25A3):c.61C>T (p.Leu21=)	rs148667033	0.00006
NM_002635.4(SLC25A3):c.*94T>C	rs886049921	0.00003
NM_002635.4(SLC25A3):c.*316A>G	rs958253516	0.00002
NM_002635.4(SLC25A3):c.312C>T (p.Asn104=)	rs774087747	0.00002
NM_002635.4(SLC25A3):c.75T>C (p.Gly25=)	rs972857493	0.00002
NM_002635.4(SLC25A3):c.*411T>C	rs757599299	0.00001
NM_002635.4(SLC25A3):c.-4-7C>T	rs766677386	0.00001
NM_002635.4(SLC25A3):c.4T>C (p.Phe2Leu)	rs886049919	0.00001
NM_002635.4(SLC25A3):c.648C>T (p.Tyr216=)	rs756464886	0.00001
NM_002635.4(SLC25A3):c.715C>T (p.Arg239Cys)	rs772819565	0.00001
NM_005888.3(SLC25A3):c.-69G>A	rs1272113129	0.00001
NM_002635.4(SLC25A3):c.*296G>T	rs2097598160
NM_002635.4(SLC25A3):c.*360del	rs886049922
NM_002635.4(SLC25A3):c.*429C>G	rs2097598266
NM_002635.4(SLC25A3):c.-38C>T	rs542602103
NM_002635.4(SLC25A3):c.1020A>G (p.Arg340=)	rs1592980731
NM_002635.4(SLC25A3):c.147C>A (p.Ala49=)	rs370367708
NM_002635.4(SLC25A3):c.666C>G (p.Leu222=)	rs771170406
NM_002635.4(SLC25A3):c.814+4C>T	rs886049920
NM_002635.4(SLC25A3):c.814+5G>T	rs200029342
NM_002635.4(SLC25A3):c.858G>T (p.Val286=)	rs750516275
NM_005888.3(SLC25A3):c.-120G>C	rs774325459
NM_005888.3(SLC25A3):c.-61G>T	rs886049918

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.