ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1G by KTest Genetics, KTest

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs) rs2154133662
NM_001267550.2(TTN):c.13898_13899del (p.Lys4633fs) rs2154317474
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs) rs2154350008
NM_001267550.2(TTN):c.40688_40689insT (p.Arg13565fs) rs2154238038
NM_001267550.2(TTN):c.41608+1G>T rs2154230056
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter) rs2154200779
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.54809del (p.Ile18270fs) rs2154194604
NM_001267550.2(TTN):c.58240_58244del (p.Pro19414fs) rs2154187022
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59535del (p.Asn19846fs) rs1559602980
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.60359_60371del (p.Lys20120fs) rs2154184904
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter) rs2154174786
NM_001267550.2(TTN):c.71706del (p.Ile23902fs) rs2154171534
NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter) rs2154163535
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.87459_87460dup (p.Ser29154fs) rs2154155996
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter) rs2154146081

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