ClinVar Miner

List of variants in gene combination FANCD2, LOC107303338 reported as likely pathogenic for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_033084.5(FANCD2):c.2094_2096CCT[1] (p.Leu700del) rs869312805
NM_033084.5(FANCD2):c.491+1G>A
NM_033084.5(FANCD2):c.904C>T (p.Arg302Trp) rs121917787

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