ClinVar Miner

List of variants in gene FANCB reported as likely pathogenic for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.1327-1G>A rs1295003944 0.00001
NC_000023.11:g.(?_14857852)_(14859344_?)del
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg) rs879254329
NM_001018113.3(FANCB):c.972del (p.Lys324fs)

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