ClinVar Miner

List of variants in gene FANCE reported as pathogenic for DNA repair disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter) rs752690798 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) rs760150539 0.00001
NM_021922.3(FANCE):c.1003C>T (p.Gln335Ter)
NM_021922.3(FANCE):c.1041G>A (p.Trp347Ter)
NM_021922.3(FANCE):c.1096del (p.Ser366fs) rs1272613429
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA rs1767491456
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs) rs2150896309
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
NM_021922.3(FANCE):c.1239dup (p.Pro414fs) rs1561792535
NM_021922.3(FANCE):c.1248_1251del (p.Thr417fs)
NM_021922.3(FANCE):c.1363C>T (p.Gln455Ter)
NM_021922.3(FANCE):c.1363del (p.Gln455fs) rs1767552099
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.436del (p.Val146fs) rs1767313373
NM_021922.3(FANCE):c.518dup (p.Arg176fs)
NM_021922.3(FANCE):c.524dup (p.Arg176fs) rs773363446
NM_021922.3(FANCE):c.538del (p.Ser180fs)
NM_021922.3(FANCE):c.614_615del (p.Glu205fs)
NM_021922.3(FANCE):c.753_756dup (p.Asp253Ter)
NM_021922.3(FANCE):c.769_772dup (p.Ala258fs)
NM_021922.3(FANCE):c.879_880insT (p.Leu294fs)
NM_021922.3(FANCE):c.914T>A (p.Leu305Ter)
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.931dup (p.Val311fs)
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter) rs1767417868

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