List of variants reported as uncertain significance for Congenital dyserythropoietic anemia type 4

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Total variants: 15

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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.*367C>G	rs375799978	0.00059
NM_006563.5(KLF1):c.*311A>G	rs767532783	0.00010
NM_006563.5(KLF1):c.*263C>T	rs867980189	0.00003
NM_006563.5(KLF1):c.*2C>T	rs778904219	0.00001
NM_006563.5(KLF1):c.*312G>C	rs1970414362	0.00001
NM_006563.5(KLF1):c.255G>A (p.Pro85=)	rs886054238	0.00001
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.690C>T (p.Ala230=)	rs775669419	0.00001
NM_006563.5(KLF1):c.1016T>C (p.Phe339Ser)	rs1970419176
NM_006563.5(KLF1):c.1036C>T (p.Arg346Cys)	rs1232742005
NM_006563.5(KLF1):c.587C>T (p.Pro196Leu)
NM_006563.5(KLF1):c.676G>A (p.Ala226Thr)	rs1970432271

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