List of variants studied for congenital anomaly of cardiovascular system by Center for Reproductive Medicine, Peking University Third Hospital

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001112726.3(CEP170B):c.1102A>G (p.Lys368Glu)	rs201957243	0.00019
NM_018055.5(NODAL):c.823C>T (p.Arg275Cys)	rs781366461	0.00005
NM_001112726.3(CEP170B):c.3223C>T (p.Arg1075Trp)	rs565981186	0.00004
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)	rs374443634	0.00002
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg)	rs752052349	0.00001
NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter)	rs1861879186
NM_001377.3(DYNC2H1):c.9908T>C (p.Ile3303Thr)	rs1864508827
NM_001384125.1(BLTP1):c.14113+11G>C	rs1381896643
NM_001384125.1(BLTP1):c.9153del (p.Val3052fs)	rs1773935759
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)	rs1933151965
NM_007363.5(NONO):c.246_249del (p.Pro83fs)	rs2031334549
NM_018055.5(NODAL):c.169ATC[1] (p.Ile58del)	rs1845430541
NM_080680.3(COL11A2):c.1773+8T>A	rs1771229712
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	rs748440351

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