ClinVar Miner

List of variants in gene combination LOC126806423, TTN reported as likely pathogenic by Ambry Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.67421del (p.Lys22474fs) rs794729332
NM_001267550.2(TTN):c.67609del (p.Ile22537fs) rs1553622205
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.67900_67901del (p.Gly22634fs)
NM_001267550.2(TTN):c.68242_68243dup (p.Pro22749fs) rs1085307600
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112

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