List of variants reported as pathogenic by Robert's Program, Boston Children's Hospital

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)	rs397517776	0.00002
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)	rs104894724	0.00001
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	rs863224147
NM_000335.5(SCN5A):c.5284G>A (p.Val1762Met)	rs199473631
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)	rs1575155995
NM_001267550.2(TTN):c.97492+1G>C	rs727505319
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)	rs397516784
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	rs2033536147

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