ClinVar Miner

List of variants reported as likely pathogenic for Tetralogy of Fallot

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter) rs1017845770 0.00001
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter) rs1431830142 0.00001
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1
NC_012920.1:m.6887_6888insGGG rs1569484120
NM_001018005.2(TPM1):c.114+2T>C rs1114167357
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys) rs1445910672
NM_001379200.1(TBX1):c.437+1G>C
NM_002253.4(KDR):c.2614+1G>A
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu) rs1057515420

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