List of variants in gene NKX2-5 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His)	rs397515399	0.00001
NM_004387.4(NKX2-5):c.445dup (p.Gln149fs)	rs2113901914
NM_004387.4(NKX2-5):c.510_511dup (p.Leu171fs)
NM_004387.4(NKX2-5):c.556_560del (p.Phe186fs)	rs1581108437
NM_004387.4(NKX2-5):c.55A>G (p.Asn19Asp)
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter)	rs773922431
NM_004387.4(NKX2-5):c.777C>G (p.Tyr259Ter)	rs1057520670
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)	rs587784067
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter)	rs2480071578
NM_004387.4(NKX2-5):c.849_852dup (p.Thr285fs)

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