List of variants reported as pathogenic for congenital heart defects, multiple types, 4

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp)	rs1476787716	0.00001
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr)	rs587777371
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup)	rs780808943
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter)	rs1899172049
NM_021005.4(NR2F2):c.232G>T (p.Glu78Ter)
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter)	rs1555447012
NM_021005.4(NR2F2):c.576del (p.Thr193fs)
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter)	rs2141169116
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile)	rs587777372
NM_021005.4(NR2F2):c.856dup (p.Val286fs)	rs886041730
NM_021005.4(NR2F2):c.970+1G>A	rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs)	rs1899167019

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