ClinVar Miner

List of variants reported as likely benign for Choreoacanthocytosis by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.3(VPS13A):c.2037+8C>A rs41289961
NM_033305.3(VPS13A):c.2667+11C>T rs375898960
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=) rs139115188
NM_033305.3(VPS13A):c.6880-19G>C rs183040221
NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val) rs142981309
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn) rs117983287
NM_033305.3(VPS13A):c.9400-15A>C rs117688596

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.