ClinVar Miner

List of variants in gene NKX2-5 reported as pathogenic by Cytogenetics- Mohapatra Lab, Banaras Hindu University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) rs864321650
NM_004387.4(NKX2-5):c.335-1G>T rs864321645
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) rs864321648
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) rs864321649

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