ClinVar Miner

List of variants studied for myotonic syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (13):

Acetazolamide-responsive myotonia
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16
Myotonia congenita, atypical, acetazolamide-responsive
Myotonia fluctuans
Myotonia permanens
Myotonic dystrophy
Myotonic dystrophy type 2
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal
Steinert myotonic dystrophy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val)	rs748620733	0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val)	rs527928131	0.00001
NM_000334.4(SCN4A):c.1166del (p.Tyr389fs)
NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	rs80338792
NM_000334.4(SCN4A):c.4765G>T (p.Val1589Leu)

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