ClinVar Miner

List of variants reported as benign for Congenital dyserythropoietic anemia type 4

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006563.5(KLF1):c.304T>C (p.Ser102Pro) rs2072597 0.36000
NM_006563.5(KLF1):c.*277C>T rs16978757 0.05559
NM_006563.5(KLF1):c.*296G>A rs16978754 0.05553
NM_006563.5(KLF1):c.544T>C (p.Phe182Leu) rs2072596 0.04509
NM_006563.5(KLF1):c.115A>C (p.Met39Leu) rs112631212 0.02025
NM_006563.5(KLF1):c.311C>T (p.Ala104Val) rs182276666 0.00210
NM_006563.5(KLF1):c.325C>T (p.Pro109Ser) rs117351327 0.00179
NM_006563.5(KLF1):c.*22T>A rs149022596 0.00172
NM_006563.5(KLF1):c.520G>T (p.Gly174Cys) rs566095433 0.00089
NM_006563.5(KLF1):c.*254C>T rs564687827 0.00081
NM_006563.5(KLF1):c.629C>G (p.Pro210Arg) rs530729436 0.00040
NM_006563.5(KLF1):c.*454C>G rs538356283 0.00035
NM_006563.5(KLF1):c.541T>A (p.Tyr181Asn) rs547785696 0.00024
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) rs199685739 0.00014
NM_006563.5(KLF1):c.*185G>A rs137908457 0.00007
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) rs757861047 0.00005
NM_006563.5(KLF1):c.286C>T (p.Leu96=) rs748056490 0.00001
NM_006563.5(KLF1):c.*291A>G rs531279487

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