ClinVar Miner

List of variants in gene TTN reported as pathogenic for Neuromuscular disease

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_001267550.2(TTN):c.107377+1G>A	rs112188483	0.00002
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	rs757082154	0.00001

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