ClinVar Miner

List of variants in gene ALG13 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.383+1033G>A rs772039609 0.00017
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=) rs865879266 0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946 0.00013
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=) rs368020541 0.00005
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=) rs754346057 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=) rs758659441 0.00001
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=) rs1285221362
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
NM_001099922.3(ALG13):c.383+2827A>C

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.