ClinVar Miner

List of variants studied for Nemaline myopathy 2 by Fulgent Genetics,Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_001271208.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104
NM_001271208.2(NEB):c.10802A>G (p.His3601Arg) rs371568550
NM_001271208.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558
NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423
NM_001271208.2(NEB):c.22099G>A (p.Val7367Ile) rs189609282
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534
NM_001271208.2(NEB):c.78+1G>A rs778593702

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.