ClinVar Miner

List of variants in gene NKX2-6 reported as likely pathogenic for congenital heart disease

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs) rs757292066
NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)

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