ClinVar Miner

List of variants reported as uncertain significance for familial periodic paralysis by Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)	rs372631097	0.00006
NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn)	rs1345007864	0.00001
NM_000083.3(CLCN1):c.2639_2641del (p.Leu880del)
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)	rs760403755
NM_000334.4(SCN4A):c.791T>C (p.Phe264Ser)
NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr)
NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)

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