ClinVar Miner

List of variants in gene TTN studied for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 41
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HGVS dbSNP
NM_001267550.2(TTN):c.*99dup rs11424072
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.34241_34243AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576_40578GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.55432+5G>C rs754717390
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258
NM_001267550.2(TTN):c.60050_60052AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841
NM_133379.5(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_133379.5(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_133379.5(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_133379.5(TTN):c.7156G>A (p.Gly2386Ser) rs777101912
NM_133379.5(TTN):c.915-7dup rs730880351

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