ClinVar Miner

List of variants studied for Fanconi anemia complementation group E by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
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.1316+19G>A rs6457823 0.14669
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.-56C>T rs4713866 0.01055
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_021922.3(FANCE):c.246G>A (p.Glu82=) rs769779495 0.00020
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867

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