ClinVar Miner

List of variants reported as pathogenic for nemaline myopathy 10

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198271.5(LMOD3):c.131_132del (p.Pro44fs) rs1300427865 0.00002
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter) rs724159964 0.00001
NC_000003.11:g.(?_69158226)_(69171557_?)del
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg) rs1057519129
NM_198271.5(LMOD3):c.1012G>T (p.Glu338Ter)
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs) rs778840325
NM_198271.5(LMOD3):c.102del (p.Glu34fs) rs2092412254
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter) rs724159965
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) rs727502798
NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)
NM_198271.5(LMOD3):c.1192del (p.Arg398fs) rs2107526137
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter) rs2107526111
NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter)
NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter) rs2092391598
NM_198271.5(LMOD3):c.1372C>T (p.Gln458Ter)
NM_198271.5(LMOD3):c.138dup (p.Ser47fs) rs727502797
NM_198271.5(LMOD3):c.1434C>G (p.Tyr478Ter)
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) rs2107525795
NM_198271.5(LMOD3):c.1543_1544del (p.Ile515fs)
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer) rs1369933918
NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu) rs199655993
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128
NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs) rs1274699363
NM_198271.5(LMOD3):c.476del (p.Gly159fs) rs1426709672
NM_198271.5(LMOD3):c.637dup (p.Ile213fs)
NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter) rs2092396963
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs) rs769824247
NM_198271.5(LMOD3):c.780del (p.Asn261fs)
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer) rs1212229943
NM_198271.5(LMOD3):c.882dup (p.Asp295fs)
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)
NM_198271.5(LMOD3):c.971del (p.Gly324fs) rs2107526351

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.