ClinVar Miner

List of variants in gene DICER1 reported as pathogenic by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
NM_177438.3(DICER1):c.2213del (p.Gly738fs) rs2140067347
NM_177438.3(DICER1):c.3326C>G (p.Ser1109Ter) rs1891186811
NM_177438.3(DICER1):c.3373del (p.Ser1125fs)
NM_177438.3(DICER1):c.4004dup (p.Tyr1335Ter) rs878855262
NM_177438.3(DICER1):c.4605_4606del (p.Cys1535fs) rs886037717
NM_177438.3(DICER1):c.901C>T (p.Gln301Ter) rs781144010

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