ClinVar Miner

List of variants in gene ALPK3 reported as pathogenic for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_020778.5(ALPK3):c.2470dup (p.Ser824fs) rs1567093598 0.00001
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 0.00001
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.2471delinsTCATT (p.Ser824fs) rs2141567902
NM_020778.5(ALPK3):c.3186G>A (p.Trp1062Ter) rs1555435531
NM_020778.5(ALPK3):c.3381del (p.Ser1129fs) rs2141569005
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter) rs1555436118
NM_020778.5(ALPK3):c.913C>T (p.Gln305Ter) rs1225841418

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.