List of variants in gene NKX2-5 studied for Tetralogy of Fallot

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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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.61G>C (p.Glu21Gln)	rs104893904	0.00073
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)	rs553883993	0.00003
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)	rs104893902	0.00001
NM_004387.4(NKX2-5):c.335-310_335-309insA
NM_004387.4(NKX2-5):c.439del (p.Gln147fs)	rs1761360431
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu)	rs864321649
NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)	rs2480073228
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup)	rs746833511
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)	rs104893905

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