ClinVar Miner

List of variants in gene TTN reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.83902C>T (p.Pro27968Ser) rs541254027 0.00004
NM_001267550.2(TTN):c.49345+23dup rs566373563
NM_001267550.2(TTN):c.50048T>A (p.Ile16683Asn) rs1057520148
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_133378.4(TTN):c.26780-19dup rs397517532

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