ClinVar Miner

List of variants reported as uncertain significance for familial periodic paralysis by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	rs527236149	0.00003
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val)	rs1395381249	0.00002
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	rs80338788
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)	rs760403755
NM_000334.4(SCN4A):c.336C>G (p.Tyr112Ter)

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