List of variants in gene combination KLF1, LOC117125591 reported as pathogenic for Anemia, congenital dyserythropoietic, type IVb

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_006563.5(KLF1):c.1012C>A (p.Pro338Thr)
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro)	rs387907598
NM_006563.5(KLF1):c.902G>A (p.Arg301His)
NM_006563.5(KLF1):c.954dup (p.Arg319fs)	rs397514445

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