List of variants in gene CACNA1G reported as likely pathogenic 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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)	rs368561457	0.00001
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)	rs1250995341
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)	rs200024646
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)	rs2145795264
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu)	rs2145968180
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn)	rs2146373286
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)	rs2039524843

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.