ClinVar Miner

List of variants in gene combination LOC126806429, TTN studied for not provided

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.19994-63T>C rs2255480 0.02404
NM_001267550.2(TTN):c.20275+109G>A rs114742263 0.02044
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.20275+136C>T rs79057558 0.00465
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
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.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) rs775289296 0.00004
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) rs772947420 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile) rs140143513 0.00004
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val) rs369108292 0.00003
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394 0.00003
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) rs370671112 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.19769C>T (p.Thr6590Ile) rs760473000 0.00002
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20074G>A (p.Ala6692Thr) rs757056558 0.00001
NM_001267550.2(TTN):c.20169C>T (p.Ala6723=) rs727504776 0.00001
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) rs794727829
NM_001267550.2(TTN):c.19798A>G (p.Thr6600Ala)
NM_001267550.2(TTN):c.19799C>T (p.Thr6600Ile)
NM_001267550.2(TTN):c.19843G>A (p.Val6615Ile) rs2154305992
NM_001267550.2(TTN):c.19850G>A (p.Gly6617Asp)
NM_001267550.2(TTN):c.19856A>C (p.Lys6619Thr)
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19910A>G (p.Asp6637Gly)
NM_001267550.2(TTN):c.19967C>G (p.Ser6656Cys) rs761716450
NM_001267550.2(TTN):c.19994-8C>G
NM_001267550.2(TTN):c.19996C>G (p.Pro6666Ala)
NM_001267550.2(TTN):c.20027C>A (p.Ser6676Tyr) rs746565627
NM_001267550.2(TTN):c.20083C>T (p.Pro6695Ser)
NM_001267550.2(TTN):c.20098G>T (p.Val6700Leu) rs72648957
NM_001267550.2(TTN):c.20099T>C (p.Val6700Ala)
NM_001267550.2(TTN):c.20125C>T (p.Pro6709Ser)
NM_001267550.2(TTN):c.20138A>C (p.Lys6713Thr) rs1410340266
NM_001267550.2(TTN):c.20170G>T (p.Val6724Phe) rs140143513
NM_001267550.2(TTN):c.20182A>G (p.Asn6728Asp)
NM_001267550.2(TTN):c.20185A>C (p.Asn6729His) rs794729619
NM_001267550.2(TTN):c.20260A>G (p.Lys6754Glu) rs397517494
NM_001267550.2(TTN):c.20275+275dup rs144493857

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