List of variants reported as likely pathogenic by Embryology Laboratory, Victor Chang Cardiac Research Institute

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003937.3(KYNU):c.616G>A (p.Glu206Lys)	rs765122670	0.00002
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg)	rs771131526
NM_003937.3(KYNU):c.361_363del (p.Lys121del)	rs767060858
NM_016312.3(WBP11):c.280C>T (p.Arg94Ter)	rs1949900423
NM_016312.3(WBP11):c.612del (p.Gly205fs)	rs1949868116
NM_018161.5(NADSYN1):c.1088C>T (p.Ala363Val)
NM_018161.5(NADSYN1):c.1759G>A (p.Asp587Asn)
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018161.5(NADSYN1):c.271del (p.Met91fs)	rs1376159616
NM_018161.5(NADSYN1):c.379C>T (p.Arg127Cys)

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