ClinVar Miner

List of variants reported as likely pathogenic by Genetics and Genomics Program,Sidra Medicine

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Total variants: 10
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NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_001267550.2(TTN):c.40608del (p.Lys13536fs)
NM_001267550.2(TTN):c.54327del (p.Lys18110fs)
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431
NM_003365.3(UQCRC1):c.826C>T (p.Arg276Cys)
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158

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