ClinVar Miner

List of variants in gene FANCF reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_022725.4(FANCF):c.2T>G (p.Met1Arg) rs745495865 0.00001
NC_000011.9:g.(?_22644078)_(22647388_?)del
NM_022725.4(FANCF):c.123dup (p.Arg42fs) rs1858636931
NM_022725.4(FANCF):c.133_136del (p.His45fs)
NM_022725.4(FANCF):c.16C>T (p.Gln6Ter) rs104894221
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter) rs753272712
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.236del (p.Gly79fs)
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) rs2133798885
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
NM_022725.4(FANCF):c.283_284del (p.Leu95fs) rs2133798188
NM_022725.4(FANCF):c.2T>C (p.Met1Thr) rs745495865
NM_022725.4(FANCF):c.326dup (p.Tyr109Ter) rs2133798073
NM_022725.4(FANCF):c.327C>G (p.Tyr109Ter) rs104894222
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
NM_022725.4(FANCF):c.3G>A (p.Met1Ile) rs2133798927
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) rs766279442
NM_022725.4(FANCF):c.534del (p.Lys179fs) rs2133797515
NM_022725.4(FANCF):c.535A>T (p.Lys179Ter)
NM_022725.4(FANCF):c.538del (p.Ala180fs)
NM_022725.4(FANCF):c.594_595del (p.Asn199fs) rs2133797345
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_022725.4(FANCF):c.63del (p.Tyr22fs)
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
NM_022725.4(FANCF):c.667G>T (p.Glu223Ter)
NM_022725.4(FANCF):c.84del (p.Ala29fs) rs1275961745
NM_022725.4(FANCF):c.88dup (p.Thr30fs)

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