List of variants reported as likely pathogenic for thoracic malformation by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	rs199952377	0.00019
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)	rs199947197	0.00009
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)	rs139021548	0.00004
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
NM_001377.3(DYNC2H1):c.3262dup (p.Ile1088fs)	rs767206815
NM_147127.5(EVC2):c.222_228+21del	rs1484464278

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