ClinVar Miner

List of variants reported as likely pathogenic for Fanconi anemia by Istanbul Faculty of Medicine, Istanbul University

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.1509+1G>A rs745877509 0.00001
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter) rs1158456786
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs) rs2078112057

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