ClinVar Miner

List of variants studied for muscular channelopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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

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

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_000083.3(CLCN1):c.180+3A>T	rs202217420	0.00019
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00006
NM_000540.3(RYR1):c.2920G>A (p.Val974Met)	rs748676912	0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	rs118192177	0.00004
NM_000083.3(CLCN1):c.979G>A (p.Val327Ile)	rs774396430	0.00002
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu)	rs202179484	0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)	rs199473378	0.00001
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	rs80356700
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	rs527236150
NM_000334.4(SCN4A):c.3912+3del
NM_000334.4(SCN4A):c.3955T>C (p.Tyr1319His)
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	rs748517635
NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)	rs193922766
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	rs193922868
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	rs121918595
NM_000540.3(RYR1):c.1615T>C (p.Phe539Leu)	rs193922769
NM_000540.3(RYR1):c.329A>G (p.His110Arg)
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	rs193922810
NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe)	rs781126470
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)	rs786205820
NM_019098.5(CNGB3):c.1493del (p.Leu498fs)	rs773381712
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro)
NM_019098.5(CNGB3):c.2105del (p.Lys702fs)	rs2131529670
NM_019098.5(CNGB3):c.595del (p.Glu199fs)	rs1823778696

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