ClinVar Miner

List of variants reported as likely pathogenic for bone marrow disorder by Human Genetics Section, Sidra Medicine

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.2404_2405dup (p.Gln802fs)
NM_004629.2(FANCG):c.355_356del (p.Arg119fs)
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410

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