ClinVar Miner

List of variants in gene CACNA1S reported as not provided for familial periodic paralysis

Included ClinVar conditions (19):

Andersen Tawil syndrome
Andersen Tawil syndrome; Short QT syndrome type 1; Atrial fibrillation, familial, 1
Andersen Tawil syndrome; Short QT syndrome type 3
Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9
Familial hyperkalemic periodic paralysis
Familial periodic paralysis
Hypokalemic periodic paralysis
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis
Normokalemic periodic paralysis, potassium-sensitive
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Familial hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 2

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)	rs760246258	0.00013
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	rs80338778	0.00002
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	rs80338777	0.00001
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)	rs80338778
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	rs267606698
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)	rs80338779
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)	rs2102582533
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	rs28930069
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	rs28930068

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.