ClinVar Miner

List of variants in gene TTN reported as uncertain significance for Bilateral talipes equinovarus; Restrictive deficit on pulmonary function testing; Areflexia of lower limbs; Spinal rigidity; Thoracic kyphoscoliosis

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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NM_001267550.2(TTN):c.30395A>G (p.His10132Arg) rs1057518758
NM_133378.4(TTN):c.61120+1G>A rs112484439

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