ClinVar Miner

List of variants reported as likely pathogenic for bone marrow disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531

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