ClinVar Miner

List of variants in gene NKX2-5 reported as pathogenic for not provided

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_004387.4(NKX2-5):c.335-1G>A
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) rs876661381
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs) rs797045790
NM_004387.4(NKX2-5):c.530_536del (p.Leu177fs) rs2113901648
NM_004387.4(NKX2-5):c.554_555insC (p.Trp185fs) rs786205826
NM_004387.4(NKX2-5):c.685_686dup (p.Cys230fs) rs797044675
NM_004387.4(NKX2-5):c.777C>G (p.Tyr259Ter) rs1057520670

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