ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Congenital muscular dystrophy; Scoliosis; Broad-based gait; Delayed gross motor development; Distal muscle weakness; Gowers sign; Severe muscular hypotonia; Heart murmur

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) rs886041287

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