List of variants reported as uncertain significance for Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)	rs746812421	0.00020
NM_001379200.1(TBX1):c.711+3G>A	rs376779775	0.00007
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)	rs753192876	0.00003
NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	rs757290764	0.00002
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)	rs1359119941	0.00002
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)	rs373539086	0.00001
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)	rs1452987245
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)	rs781731042
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)	rs1192078635
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])	rs1288296547
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln)	rs367711718
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)	rs1601282938
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	rs144848597

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