ClinVar Miner

List of variants in gene ALG13 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.384-213C>T rs1078540 0.26262
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_001099922.3(ALG13):c.1729+61G>A rs58580842 0.23558
NM_001099922.3(ALG13):c.835-22T>C rs5985635 0.20221
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_001099922.3(ALG13):c.2530-262C>T rs7055116 0.10646
NM_001099922.3(ALG13):c.383+831G>A rs146299985 0.08437
NC_000023.11:g.111680918del rs200121020 0.08071
NM_001099922.3(ALG13):c.383+239dup rs199523048 0.03223
NM_001099922.3(ALG13):c.1250+111C>T rs116840628 0.02501
NM_001099922.3(ALG13):c.834+194A>G rs114393695 0.02501
NM_001099922.3(ALG13):c.383+1129G>A rs112282413 0.02486
NM_001099922.3(ALG13):c.1006-97A>G rs58875439 0.01558
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_001099922.3(ALG13):c.2401+12C>A rs150294098 0.00767
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001099922.3(ALG13):c.383+1029A>G rs139631003 0.00625
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.82-150_82-149insCTTTA rs10674188

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.