ClinVar Miner

List of variants studied for proximal myopathy with extrapyramidal signs

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195518.2(MICU1):c.538-4A>G rs3793927 0.46289
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.1A>G (p.Met1Val) rs747832014 0.00001
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.156G>A (p.Trp52Ter)
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(MICU1):c.538-20G>A
NM_001195518.2(MICU1):c.765dup (p.Met256fs)
NM_001195518.2(MICU1):c.88C>T (p.Arg30Trp)
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.