ClinVar Miner

List of variants reported as risk factor for familial periodic paralysis by OMIM

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000069.2(CACNA1S):c.-476G>A	rs2281845	0.50680
NM_000069.3(CACNA1S):c.258+57G>A	rs1325310	0.28632
NM_001194958.2(KCNJ18):c.1061C>T (p.Thr354Met)	rs527236158	0.00163
NM_001194958.2(KCNJ18):c.614G>A (p.Arg205His)	rs672601244	0.00005
NM_000069.3(CACNA1S):c.3414+67A>G	rs28986463
NM_001194958.2(KCNJ18):c.1097A>G (p.Lys366Arg)	rs527236159
NM_001194958.2(KCNJ18):c.429del (p.Ile144fs)	rs527236153

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