ClinVar Miner

List of variants in gene TTN reported by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_133379.5(TTN):c.11360del (p.Glu3787fs) rs1309605744 0.00001
NM_001267550.2(TTN):c.11311+1080del rs58651353

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