ClinVar Miner

List of variants reported as not provided for centronuclear myopathy

Included ClinVar conditions (15):

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
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; 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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A	rs222410	0.58566
NM_139343.3(BIN1):c.715G>A (p.Val239Ile)	rs146573197	0.00036
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_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)	rs146407179	0.00002
NM_005876.5(SPEG):c.2134G>A (p.Val712Met)	rs375953839	0.00001
NM_000252.3(MTM1):c.1261-10A>G	rs397518445
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys)	rs1555717200
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln)	rs1046402338
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn)	rs201170917

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