ClinVar Miner

List of variants reported as pathogenic for immune system disorder by Human Genetics Section, Sidra Medicine

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs) rs770263417
NM_022725.4(FANCF):c.538del (p.Ala180fs)

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