ClinVar Miner

List of variants in gene ACTA1 reported as likely pathogenic for childhood-onset nemaline myopathy

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.3(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001100.3(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.3(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001100.3(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.3(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.3(ACTA1):c.990+1G>T rs372686280

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.