List of variants in gene combination KLF1, LOC130063673 reported as uncertain significance for Congenital dyserythropoietic anemia type 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006563.5(KLF1):c.478G>A (p.Glu160Lys)	rs772655521	0.00060
NM_006563.5(KLF1):c.353G>A (p.Gly118Asp)	rs886054237	0.00001
NM_006563.5(KLF1):c.409C>T (p.Arg137Cys)	rs111888566	0.00001
NM_006563.5(KLF1):c.606G>A (p.Gly202=)	rs886054236	0.00001
NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)

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