ClinVar Miner

List of variants in gene CACNA1C reported as uncertain significance for History of neurodevelopmental disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000719.6(CACNA1C):c.1414G>A (p.Glu472Lys)
NM_000719.6(CACNA1C):c.1852G>A (p.Val618Met)
NM_000719.6(CACNA1C):c.3234C>A (p.Asp1078Glu)
NM_000719.6(CACNA1C):c.3862G>A (p.Ala1288Thr) rs367895193
NM_000719.6(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699
NM_000719.6(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583
NM_000719.6(CACNA1C):c.4819C>G (p.Pro1607Ala)
NM_000719.6(CACNA1C):c.5308G>A (p.Ala1770Thr)
NM_000719.6(CACNA1C):c.6060_6065delCCAGGC (p.Gln2021_Ala2022del)
NM_000719.6(CACNA1C):c.6068G>A (p.Gly2023Glu)
NM_000719.6(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.6(CACNA1C):c.6275G>C (p.Gly2092Ala) rs755430543
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421

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.