ClinVar Miner

List of variants reported as uncertain significance for familial periodic paralysis by Baylor Genetics

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)	rs747618077	0.00010
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys)	rs377082783	0.00002
NM_000334.4(SCN4A):c.415A>T (p.Ile139Phe)	rs1433506611	0.00001
NM_000069.3(CACNA1S):c.1949-8_1949-1del
NM_000069.3(CACNA1S):c.3526-2A>G	rs797045031
NM_000334.4(SCN4A):c.4175T>C (p.Phe1392Ser)	rs1908590856

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