ClinVar Miner

List of variants in gene TTN reported by Mendelics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.-71G>A rs368880755 0.00006
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.3304G>A (p.Gly1102Arg) rs1016142990
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp) rs964700696
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter) rs1430676547

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