ClinVar Miner

List of variants in gene combination LOC126806425, TTN reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.52552C>T (p.Arg17518Cys) rs200974180 0.00001
NM_001267550.2(TTN):c.52751C>T (p.Thr17584Ile) rs776113556 0.00001
NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg) rs1269389543 0.00001

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