List of variants in gene CACNA1S reported as likely pathogenic by Invitae

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: 30

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.5049-2A>G	rs148989517	0.00056
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	rs80338778	0.00002
NM_000069.3(CACNA1S):c.1948+1G>A	rs745712829	0.00002
NM_000069.3(CACNA1S):c.1233-1G>A	rs760082356	0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	rs80338777	0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	rs201627041	0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	rs772226819	0.00001
NM_000069.3(CACNA1S):c.695-1G>A	rs1213421499	0.00001
NM_000069.3(CACNA1S):c.1948+2T>C
NM_000069.3(CACNA1S):c.1949-8_1986del
NM_000069.3(CACNA1S):c.2063+1G>A	rs1407484817
NM_000069.3(CACNA1S):c.2158-2A>G	rs2102135936
NM_000069.3(CACNA1S):c.2228-1G>A
NM_000069.3(CACNA1S):c.2491-2A>G
NM_000069.3(CACNA1S):c.258+2T>C
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)	rs2102582533
NM_000069.3(CACNA1S):c.2853+1G>T
NM_000069.3(CACNA1S):c.2854-2A>C	rs1572036396
NM_000069.3(CACNA1S):c.3415-1G>A	rs780724976
NM_000069.3(CACNA1S):c.3525+1G>A	rs1572033599
NM_000069.3(CACNA1S):c.3526-2A>G	rs797045031
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)
NM_000069.3(CACNA1S):c.4113+1G>A	rs1558056376
NM_000069.3(CACNA1S):c.4113+1G>C	rs1558056376
NM_000069.3(CACNA1S):c.4442-2A>G	rs2102553716
NM_000069.3(CACNA1S):c.4543+2T>C	rs1572023336
NM_000069.3(CACNA1S):c.4797+1G>A	rs1323823133
NM_000069.3(CACNA1S):c.4798-2A>G	rs1428157373
NM_000069.3(CACNA1S):c.5226+1G>A
NM_000069.3(CACNA1S):c.5227-2del	rs1660108555

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.