ClinVar Miner

List of variants reported as benign for Nemaline myopathy 8

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg) rs123509 0.81037
NM_152393.4(KLHL40):c.1034A>G (p.Asn345Ser) rs6805421 0.59704
NM_152393.4(KLHL40):c.324A>G (p.Ala108=) rs35033264 0.03599
NM_152393.4(KLHL40):c.1053C>T (p.His351=) rs61736693 0.03162
NM_152393.4(KLHL40):c.1251C>G (p.Val417=) rs9872183 0.01087
NM_152393.4(KLHL40):c.1104C>T (p.Phe368=) rs147863385 0.00642
NM_152393.4(KLHL40):c.1540G>A (p.Val514Met) rs146266900 0.00391
NM_152393.4(KLHL40):c.1313+7A>G rs185171192 0.00259
NM_152393.4(KLHL40):c.872A>C (p.Lys291Thr) rs74843241 0.00168
NM_152393.4(KLHL40):c.1421+9G>A rs184819763 0.00148
NM_152393.4(KLHL40):c.600G>A (p.Arg200=) rs142392214 0.00090
NM_152393.4(KLHL40):c.1314-12C>T rs201343745 0.00082
NM_152393.4(KLHL40):c.447C>T (p.Ala149=) rs138852341 0.00074
NM_152393.4(KLHL40):c.648G>T (p.Ala216=) rs200613578 0.00072
NM_152393.4(KLHL40):c.1801G>A (p.Ala601Thr) rs144659891 0.00066
NM_152393.4(KLHL40):c.1738C>A (p.Leu580Ile) rs149980411 0.00033
NM_152393.4(KLHL40):c.277G>C (p.Glu93Gln) rs202061995 0.00024
NM_152393.4(KLHL40):c.1620C>T (p.Phe540=) rs199888675 0.00005
NM_152393.4(KLHL40):c.1825C>T (p.Leu609=) rs200908056 0.00001
NM_152393.4(KLHL40):c.1608-3dup rs773899564
NM_152393.4(KLHL40):c.1762GAG[2] (p.Glu590del) rs142843476

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.