ClinVar Miner

List of variants reported as pathogenic for anemia by Department of Medical Genetics, Oslo University Hospital

Included ClinVar conditions (288):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
NM_006563.5(KLF1):c.1012C>T (p.Pro338Ser) rs387907599
NM_006563.5(KLF1):c.892G>C (p.Ala298Pro) rs387907598

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