ClinVar Miner

Variants in gene FANCE with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_021922.3(FANCE):c.856-70G>A rs9470033 0.14674
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_021922.3(FANCE):c.970-84T>C rs3800376 0.08678
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.855+58A>G rs3800377

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