ClinVar Miner

List of variants reported as likely pathogenic for aplastic anemia by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (107):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.3(MPL):c.269G>A (p.Arg90Gln)
NM_005373.3(MPL):c.391G>A (p.Gly131Ser)
NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_033084.6(FANCD2):c.3219del (p.Phe1073fs)
NM_033084.6(FANCD2):c.39dup (p.Glu14fs)

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