List of variants in gene MICU1 reported as pathogenic for proximal myopathy with extrapyramidal signs

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

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001195518.2(MICU1):c.161+1G>A	rs375502236	0.00004
NM_001195518.2(MICU1):c.386G>C (p.Arg129Pro)	rs375664373	0.00004
NM_001195518.2(MICU1):c.52C>T (p.Arg18Ter)	rs746453954	0.00003
NM_001195518.2(MICU1):c.735+1G>A	rs369915689	0.00002
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter)	rs777327250	0.00001
MICU1, EX9-10DUP
NG_033179.1:g.(5183_64397)_(64560_68128)_del
NM_001195518.2(MICU1):c.1042C>T (p.Gln348Ter)	rs1135401814
NM_001195518.2(MICU1):c.1072-1G>C	rs754639936
NM_001195518.2(MICU1):c.310del (p.Ser104fs)	rs1840335901
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)	rs538329212
NM_001195518.2(MICU1):c.40del (p.Ala14fs)	rs749124658
NM_001195518.2(MICU1):c.460C>T (p.Arg154Ter)	rs1840027040
NM_001195518.2:g.(?_74326370)_(74326571_?)del

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.