ClinVar Miner

List of variants reported as uncertain significance for muscular channelopathy by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (43):

Acetazolamide-responsive myotonia
Achromatopsia 3
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa
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
Central core myopathy; Malignant hyperthermia, susceptibility to, 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form
Hyperkalemic periodic paralysis
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; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1; Congenital myopathy 18
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
Hypokalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis
Malignant hyperthermia of anesthesia
Malignant hyperthermia of anesthesia; Neuromuscular disease
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 5
Muscular channelopathy
Myotonia congenita, atypical, acetazolamide-responsive
Myotonia fluctuans
Myotonia permanens
Normokalemic periodic paralysis, potassium-sensitive
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
SCN4A-related channelopathy
Thomsen and Becker disease

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)	rs145044872	0.00046
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	rs144336148	0.00029
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	rs201509501	0.00014
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp)	rs575780192	0.00004
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)	rs146306934	0.00003
NM_080704.4(TRPV1):c.2165G>A (p.Arg722His)	rs771123129	0.00002
NM_000334.4(SCN4A):c.5285G>A (p.Gly1762Glu)	rs1328990008	0.00001
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp)	rs144685735	0.00001
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)	rs146497999
NM_000083.3(CLCN1):c.502C>G (p.Pro168Ala)
NM_000540.3(RYR1):c.11132C>T (p.Thr3711Met)	rs375915752
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del)	rs1238215145
NM_000540.3(RYR1):c.12842_12859del (p.Gly4281_Ala4286del)
NM_000540.3(RYR1):c.13054G>C (p.Ala4352Pro)
NM_000540.3(RYR1):c.1810T>C (p.Ser604Pro)	rs901536375
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	rs769650157
NM_000540.3(RYR1):c.6650G>A (p.Gly2217Asp)
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe)	rs781126470
NM_000540.3(RYR1):c.957+5_957+29del	rs794726982

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