ClinVar Miner

List of variants in gene combination LOC126806429, TTN reported as likely benign by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.20275+109G>A rs114742263 0.02044
NM_001267550.2(TTN):c.20275+136C>T rs79057558 0.00465
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224 0.00081
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00012
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) rs775289296 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.20275+275dup rs144493857

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