ClinVar Miner

List of variants in gene KLF1, LOC117125591 studied for familial hemolytic anemia

Included ClinVar conditions (77):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006563.5(KLF1):c.803G>T (p.Arg268Leu) rs199685739 0.00014
NM_006563.5(KLF1):c.757G>A (p.Glu253Lys) rs757861047 0.00005
NM_006563.5(KLF1):c.1012C>A (p.Pro338Thr)
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser) rs387907599
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.892G>C (p.Ala298Pro) rs387907598
NM_006563.5(KLF1):c.902G>A (p.Arg301His)
NM_006563.5(KLF1):c.913+1G>A rs483352840
NM_006563.5(KLF1):c.954dup (p.Arg319fs) rs397514445
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys) rs267607201

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