ClinVar Miner

List of variants in gene TBX1 studied for Conotruncal heart malformations; Velocardiofacial syndrome; DiGeorge syndrome; Tetralogy of Fallot

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) rs555522870 0.00026
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu) rs746812421 0.00020
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) rs918788695 0.00014
NM_001379200.1(TBX1):c.711+3G>A rs376779775 0.00006
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.1004C>T (p.Ala335Val)
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.1342C>A (p.Pro448Thr)
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.170_229del (p.Pro57_Pro76del)
NM_001379200.1(TBX1):c.623C>T (p.Ser208Leu) rs1936759742
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys) rs144848597
NM_080646.2(TBX1):c.1143_1149delinsTGGGTATTG (p.Phe382fs)

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