List of variants in gene CACNB2 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_201596.3(CACNB2):c.1794T>C (p.Ser598=)	rs34503140	0.00787
NM_201596.3(CACNB2):c.873G>A (p.Leu291=)	rs138423466	0.00355
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile)	rs143326262	0.00181
NM_201596.3(CACNB2):c.121-4T>G	rs74120235	0.00088
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe)	rs150528041	0.00064
NM_201596.3(CACNB2):c.209G>A (p.Arg70His)	rs150722502	0.00063
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu)	rs144182966	0.00045
NM_201596.3(CACNB2):c.334-8C>T	rs374465425	0.00006
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr)	rs552868927	0.00002
NM_201596.3(CACNB2):c.121-3_121-2insTGT	rs769211879
NM_201596.3(CACNB2):c.121-3_121-2insTTTGT	rs769211879
NM_201596.3(CACNB2):c.1521C>T (p.Ser507=)	rs143060134
NM_201596.3(CACNB2):c.326A>G (p.Lys109Arg)	rs754070618
NM_201596.3(CACNB2):c.457-17T>G	rs4485000
NM_201596.3(CACNB2):c.594-11C>T	rs2133073859

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.