ClinVar Miner

List of variants in gene TTN studied for Autosomal recessive centronuclear myopathy

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Total variants: 4
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HGVS dbSNP
NM_001256850.1(TTN):c.37675_37676insG (p.Met12559Serfs) rs1553742630
NM_001256850.1(TTN):c.67057_67063delGCATATGinsTA (p.Ala22353Terfs) rs794729338
NM_133378.4(TTN):c.11764+1G>A rs397517481
NM_133378.4(TTN):c.[68689_68692delAACA;98315delG]

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