ClinVar Miner

List of variants in gene FANCI reported as pathogenic for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
FANCI, 2T-C
FANCI, IVS31AS, A-G, -88
NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873
NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter) rs375656231
NM_001113378.1(FANCI):c.2995_2999TCCTC[1] (p.Pro1001fs)
NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.1(FANCI):c.3624_3625GT[1] (p.Cys1209fs) rs770318990
NM_001113378.1(FANCI):c.3662del (p.Lys1221fs) rs1567179036
NM_001113378.1(FANCI):c.3669_3672dup (p.Tyr1225fs)
NM_001113378.1(FANCI):c.3780T>A (p.Tyr1260Ter) rs1060501900
NM_001113378.1(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164
NM_001113378.1(FANCI):c.3854G>A (p.Arg1285Gln) rs121918163
NM_001113378.1(FANCI):c.507G>A (p.Trp169Ter) rs878854181

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