ClinVar Miner

List of variants in gene TTN reported by Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser) rs878941853 0.00001
NM_001267550.2(TTN):c.92595A>C (p.Leu30865Phe) rs192086736 0.00001
NM_001267550.2(TTN):c.101774_101776dup (p.Glu33925dup) rs1553497680
NM_001267550.2(TTN):c.11887G>A (p.Gly3963Arg) rs1000514079
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs) rs1553939749
NM_001267550.2(TTN):c.41486G>C (p.Gly13829Ala) rs1114167326
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs) rs1114167333
NM_001267550.2(TTN):c.521A>G (p.Tyr174Cys) rs1114167334
NM_001267550.2(TTN):c.54768del (p.Ser18258fs) rs1114167335
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter) rs1114167324
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs) rs1114167323
NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter) rs1114167338
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.86637T>A (p.Asn28879Lys) rs1114167328
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356

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