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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)	rs147219158	0.00034
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)	rs794728940	0.00004
NM_003365.3(UQCRC1):c.826C>T (p.Arg276Cys)	rs201911056	0.00002
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	rs179489	0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)	rs367785431	0.00001
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs)	rs2095879705
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)	rs1595850762
NM_001267550.2(TTN):c.40608del (p.Lys13536fs)	rs1284446305
NM_001267550.2(TTN):c.54327del (p.Lys18110fs)	rs2054381012
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs)	rs1708504899
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs)	rs769422187
NM_002224.4(ITPR3):c.3058+2T>C
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	rs397507548
NM_016617.4(UFM1):c.2+1G>A
NM_152564.5(VPS13B):c.3083-1G>C
NM_203397.3(MBLAC1):c.-28-1G>A

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