ClinVar Miner

List of variants in gene TTN reported as not provided by GenomeConnect, ClinGen

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Total variants: 24
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HGVS dbSNP
NM_001256850.1(TTN):c.39893-1G>A rs749705939
NM_001267550.2(TTN):c.100704C>A (p.Tyr33568Ter) rs1553501227
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.13025A>G (p.Lys4342Arg)
NM_001267550.2(TTN):c.13942G>A (p.Glu4648Lys) rs1553936042
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441
NM_001267550.2(TTN):c.23879G>A (p.Ser7960Asn) rs369302142
NM_001267550.2(TTN):c.33805G>C (p.Val11269Leu) rs1553826665
NM_001267550.2(TTN):c.55432+5G>C rs754717390
NM_001267550.2(TTN):c.58997_59009del (p.Ser19666fs)
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter)
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His) rs551496477
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
NM_001267550.2(TTN):c.92631dup (p.Lys30878fs) rs886039145
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430
NM_133379.5(TTN):c.489dup (p.Ala164fs) rs1574990483
NM_133379.5(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_133379.5(TTN):c.5582G>A (p.Arg1861His) rs140914855
NM_133379.5(TTN):c.9443G>A (p.Arg3148His) rs368786036

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