ClinVar Miner

List of variants in gene TTN reported as uncertain significance for Rare genetic intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_133379.5(TTN):c.16282G>A (p.Val5428Met)	rs199565262	0.00010
NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)	rs759611506	0.00001

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