ClinVar Miner

List of variants in gene NKX2-5 reported as pathogenic for Tetralogy of Fallot

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) rs1761360431
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905

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