ClinVar Miner

List of variants reported as benign for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.*217T>C rs4941618 0.93675
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_003850.3(SUCLA2):c.90+24G>A rs9567972 0.71769
NM_003850.3(SUCLA2):c.*328A>G rs13243 0.08057
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_003850.3(SUCLA2):c.*581T>G rs74615692 0.00652
NM_003850.3(SUCLA2):c.45C>T (p.Thr15=) rs35899901 0.00624
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_003850.3(SUCLA2):c.789T>C (p.Asp263=) rs57270175 0.00441
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_003850.2(SUCLA2):c.-34G>T rs373530187 0.00059
NM_003850.3(SUCLA2):c.*205T>C rs149321505 0.00058
NM_003850.3(SUCLA2):c.660C>T (p.Leu220=) rs148794726 0.00051
NM_003850.3(SUCLA2):c.1074A>C (p.Thr358=) rs746516356 0.00004
NM_003850.3(SUCLA2):c.88C>G (p.Gln30Glu) rs568437392 0.00001
NM_003850.3(SUCLA2):c.*661C>A rs10397
NM_003850.3(SUCLA2):c.*661C>G rs10397
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366

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.