ClinVar Miner

List of variants reported as pathogenic for dilated cardiomyopathy by KTest Genetics, KTest

Included ClinVar conditions (248):
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Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_001079802.2(FKTN):c.165+1427A>G rs557096550
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs) rs2154133662
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs) rs2154350008
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.59926+1G>A rs553526525
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter) rs2154174786
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.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter) rs2154146081
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004281.4(BAG3):c.974del (p.Pro325fs) rs1847236575
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598

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