List of variants reported as pathogenic by Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	rs190140598	0.00001
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr)	rs864309532
NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg)	rs587777848
NM_014140.4(SMARCAL1):c.1132G>T (p.Glu378Ter)	rs864309531
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	rs387907208
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)	rs864309483

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