List of variants in gene CACNA1F reported as uncertain significance by Eurofins NTD LLC (GA)

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)	rs141010716	0.00227
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser)	rs149685267	0.00086
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=)	rs144131971	0.00064
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn)	rs374663693	0.00009
NM_001256789.3(CACNA1F):c.272G>T (p.Trp91Leu)	rs782478480	0.00002
NM_001256789.3(CACNA1F):c.5253G>C (p.Gln1751His)	rs781936182	0.00001
NM_001256789.3(CACNA1F):c.571C>G (p.Pro191Ala)	rs781815938	0.00001
NM_001256789.3(CACNA1F):c.2387-19del	rs375791434
NM_001256789.3(CACNA1F):c.2461C>T (p.Leu821Phe)	rs1005399568
NM_001256789.3(CACNA1F):c.2776C>T (p.Arg926Cys)	rs886044865
NM_001256789.3(CACNA1F):c.3263A>G (p.Tyr1088Cys)	rs886044907
NM_001256789.3(CACNA1F):c.5154C>A (p.Ile1718=)	rs782565109
NM_001256789.3(CACNA1F):c.85T>G (p.Cys29Gly)	rs924041421

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.