List of variants in gene CACNA2D4 reported as uncertain significance by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_172364.5(CACNA2D4):c.1562C>T (p.Thr521Met)	rs376351407	0.00032
NM_172364.5(CACNA2D4):c.1295T>C (p.Ile432Thr)	rs200480596	0.00029
NM_172364.5(CACNA2D4):c.1216G>A (p.Gly406Ser)	rs375148197	0.00020
NM_172364.5(CACNA2D4):c.2515G>T (p.Ala839Ser)	rs756604812	0.00011
NM_172364.5(CACNA2D4):c.892G>A (p.Val298Met)	rs371792930	0.00010
NM_172364.5(CACNA2D4):c.2260G>A (p.Val754Met)	rs373032354	0.00005
NM_172364.5(CACNA2D4):c.1617G>C (p.Glu539Asp)	rs767999612	0.00001
NM_172364.5(CACNA2D4):c.1940+5G>A	rs374475309	0.00001
NM_172364.5(CACNA2D4):c.2055-1G>A	rs749463003	0.00001
NM_172364.5(CACNA2D4):c.2134A>G (p.Lys712Glu)	rs771911683	0.00001
NM_172364.5(CACNA2D4):c.2470+3A>G	rs972139903	0.00001
NM_172364.5(CACNA2D4):c.3227-1C>T

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.