List of variants studied for Mitochondrial complex III deficiency nuclear type 8

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_181705.4(LYRM7):c.264C>A (p.Asp88Glu)	rs199579347	0.00005
NM_181705.4(LYRM7):c.2T>C (p.Met1Thr)	rs531275086	0.00002
NM_181705.4(LYRM7):c.120C>A (p.Phe40Leu)	rs2149661849
NM_181705.4(LYRM7):c.128A>G (p.Asn43Ser)
NM_181705.4(LYRM7):c.142TCT[1] (p.Ser49del)
NM_181705.4(LYRM7):c.190TTA[3] (p.Leu66dup)	rs869025603
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu)	rs869025604
NM_181705.4(LYRM7):c.214C>T (p.Gln72Ter)	rs869025604
NM_181705.4(LYRM7):c.244+5dup	rs869025602
NM_181705.4(LYRM7):c.244+6T>G	rs1755807014
NM_181705.4(LYRM7):c.309del (p.Lys103fs)
NM_181705.4(LYRM7):c.37del (p.Thr13fs)	rs869025605
NM_181705.4(LYRM7):c.73G>A (p.Asp25Asn)	rs587777433

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.