ClinVar Miner

List of variants studied for Fanconi anemia by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr) rs766422868 0.00001
NM_004629.2(FANCG):c.1085A>G (p.Asp362Gly) rs1829076408

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