ClinVar Miner

List of variants in gene TTN studied for TTN-Related Disorders

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Total variants: 22
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HGVS dbSNP
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154
NM_001267550.2(TTN):c.11311+1740T>A rs762962308
NM_001267550.2(TTN):c.11311+5023dup
NM_001267550.2(TTN):c.13942G>A (p.Glu4648Lys) rs1553936042
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.30333C>A (p.Tyr10111Ter) rs886055289
NM_001267550.2(TTN):c.30683-2_30683-1insT rs1560474019
NM_001267550.2(TTN):c.30684dup (p.Thr10229fs) rs1560473916
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246
NM_001267550.2(TTN):c.41683dup (p.Cys13895fs) rs1559984008
NM_001267550.2(TTN):c.48180_48183dup (p.Leu16062fs) rs1559831128
NM_001267550.2(TTN):c.52323C>A (p.Tyr17441Ter) rs749855424
NM_001267550.2(TTN):c.69328T>C (p.Tyr23110His) rs1553616495
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.8377G>T (p.Glu2793Ter) rs1553995186
NM_001267550.2(TTN):c.8902+1G>A rs770392096
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789
NM_133378.4(TTN):c.26951-2delA rs1553868981
NM_133378.4(TTN):c.32854+1G>A rs368219776

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