ClinVar Miner

List of variants in gene FANCE reported as pathogenic for Fanconi anemia complementation group E

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp) rs775076977
NM_021922.2(FANCE):c.1114-8G>A rs878854342
NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) rs121434505
NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_021922.3(FANCE):c.1363del (p.Gln455fs)
NM_021922.3(FANCE):c.436del (p.Val146fs)
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)

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