ClinVar Miner

List of variants reported as likely pathogenic for Dilated cardiomyopathy 1G by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.102749del (p.Thr34250fs) rs2154135490
NM_001267550.2(TTN):c.40626dup (p.Pro13543fs) rs1553754743
NM_001267550.2(TTN):c.48963_48966del (p.Ser16321fs) rs1553703310
NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs) rs1218695159
NM_001267550.2(TTN):c.57300_57303dup (p.Ile19102Ter) rs1553659902
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.84311_84312del (p.Ile28104fs) rs1553565316
NM_001267550.2(TTN):c.94371del (p.Glu31458fs) rs1553524807

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