ClinVar Miner

List of variants reported as not provided for centronuclear myopathy by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (17):

Autosomal dominant centronuclear myopathy
Autosomal dominant centronuclear myopathy; Arthrogryposis multiplex congenita
Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Centronuclear myopathy
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Autosomal dominant Charcot-Marie-Tooth disease type 2M; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Congenital myopathy with internal nuclei and atypical cores
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal dominant centronuclear myopathy; Early-onset myopathy with fatal cardiomyopathy
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, centronuclear, 6, with fiber-type disproportion
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Severe X-linked myotubular myopathy
Split-foot malformation-mesoaxial polydactyly syndrome; Myopathy, centronuclear, 6, with fiber-type disproportion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)	rs143820618	0.00034
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu)	rs148705181	0.00015
NM_000540.3(RYR1):c.6891+3G>T	rs373333757	0.00006
NM_001267550.2(TTN):c.34930+2T>C	rs749252830	0.00004
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)	rs1555717200
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)	rs1575170417
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln)	rs1046402338

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