List of variants reported as pathogenic for congenital anomaly of cardiovascular system by Cytogenetics- Mohapatra Lab, Banaras Hindu University

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)	rs397517226	0.00015
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)	rs864321699	0.00001
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp)	rs1476787716	0.00001
NM_007078.3(LDB3):c.2146C>T (p.Pro716Ser)	rs1847527818	0.00001
NM_001077415.3(CRELD1):c.1049-401C>A
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.587G>T (p.Gly196Val)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)
NM_001200.4(BMP2):c.962A>T (p.His321Leu)
NM_001200.4(BMP2):c.982G>A (p.Glu328Lys)
NM_001308093.3(GATA4):c.1000+2T>G	rs864321705
NM_001308093.3(GATA4):c.1266C>T (p.Ser422=)	rs864321704
NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp)	rs864321698
NM_001308093.3(GATA4):c.27C>A (p.Ala9=)	rs864321703
NM_001308093.3(GATA4):c.383A>T (p.Glu128Val)	rs864321700
NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys)	rs864321701
NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg)	rs864321702
NM_001349338.3(FOXP1):c.1778C>A (p.Pro593His)	rs2034683194
NM_001719.3(BMP7):c.254A>T (p.Asp85Val)	rs2146036001
NM_003238.6(TGFB2):c.1012C>A (p.Pro338Thr)	rs2102630084
NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile)	rs2120691810
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly)	rs864321650
NM_004387.4(NKX2-5):c.335-1G>T	rs864321645
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys)	rs864321648
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)	rs864321649
NM_007078.3(LDB3):c.1723T>A (p.Phe575Ile)	rs1846937833
NM_007078.3(LDB3):c.1818T>A (p.Phe606Leu)	rs1846942383
NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)
NM_016358.3(IRX4):c.71G>A (p.Ser24Asn)

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