ClinVar Miner

List of variants studied for inherited aplastic anemia by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_024675.4(PALB2):c.395del (p.Val132fs) rs180177085 0.00001
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000135.4(FANCA):c.1226-13G>A rs377159744

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