List of variants reported as pathogenic for Anemia, congenital dyserythropoietic, type IVb

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
KLF1, -154C-T
KLF1, TRP30TER
NM_006563.5(KLF1):c.1012C>A (p.Pro338Thr)
NM_006563.5(KLF1):c.172C>T (p.Gln58Ter)
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)	rs483352838
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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