ClinVar Miner

List of variants in gene combination LOC130059555, MLYCD reported as likely benign for Deficiency of malonyl-CoA decarboxylase

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.507G>A (p.Leu169=) rs555482480 0.00088
NM_012213.3(MLYCD):c.505C>T (p.Leu169=) rs771885443 0.00003
NM_012213.3(MLYCD):c.528+10C>T rs1177520551 0.00002
NM_012213.3(MLYCD):c.501C>G (p.Leu167=) rs1003003517 0.00001
NM_012213.3(MLYCD):c.477C>G (p.Ala159=)
NM_012213.3(MLYCD):c.477C>T (p.Ala159=)
NM_012213.3(MLYCD):c.480C>T (p.Asp160=)
NM_012213.3(MLYCD):c.481C>T (p.Leu161=)
NM_012213.3(MLYCD):c.483G>C (p.Leu161=)
NM_012213.3(MLYCD):c.498C>T (p.Ala166=)
NM_012213.3(MLYCD):c.507G>C (p.Leu169=)
NM_012213.3(MLYCD):c.510G>A (p.Val170=)
NM_012213.3(MLYCD):c.519G>A (p.Pro173=)
NM_012213.3(MLYCD):c.519G>C (p.Pro173=)
NM_012213.3(MLYCD):c.525C>G (p.Val175=)
NM_012213.3(MLYCD):c.528+12C>T
NM_012213.3(MLYCD):c.528+17G>A
NM_012213.3(MLYCD):c.528+18_528+19insC
NM_012213.3(MLYCD):c.528+19T>A
NM_012213.3(MLYCD):c.528+19T>G rs446036
NM_012213.3(MLYCD):c.528+8del rs1192718101

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.