ClinVar Miner

List of variants in gene FANCE reported as benign 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: 10
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HGVS dbSNP
NM_021922.2(FANCE):c.1028G>A (p.Arg343Gln) rs45467798
NM_021922.2(FANCE):c.1071C>T (p.Leu357=) rs3823434
NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) rs142903218
NM_021922.2(FANCE):c.1333C>T (p.Pro445Ser) rs141551053
NM_021922.2(FANCE):c.1572G>A (p.Arg524=) rs115195341
NM_021922.2(FANCE):c.248+7C>A rs186563531
NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) rs145068586
NM_021922.2(FANCE):c.266G>T (p.Arg89Leu) rs45600543
NM_021922.2(FANCE):c.611C>T (p.Ser204Leu) rs7761870
NM_021922.2(FANCE):c.733_735GGA[1] (p.Gly246del) rs45451605

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