ClinVar Miner

List of variants in gene combination LOC126806427, 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.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.45594A>T (p.Ala15198=) rs368632402 0.00005
NM_001267550.2(TTN):c.45310C>T (p.Leu15104Phe) rs370782950 0.00001
NM_133378.4(TTN):c.37385_37387delAAG rs759525338

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