List of variants in gene CACNA1A reported as not provided for cerebellar disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)	rs1600353470
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)	rs121908212
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)	rs1555755909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)	rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A	rs1315533129
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	rs2144773045
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)	rs1057520918
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)	rs757643322
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)	rs2056444576
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	rs121908247
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)	rs775428832
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	rs1555773764
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)	rs121908215

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.