ClinVar Miner

List of variants in gene DICER1 reported as pathogenic by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.1023del (p.His341fs)
NM_177438.3(DICER1):c.171_172insAC (p.His58fs)
NM_177438.3(DICER1):c.316del (p.Val106fs)
NM_177438.3(DICER1):c.3434del (p.Asn1145fs)
NM_177438.3(DICER1):c.3452_3453del (p.Val1151fs) rs1555369632
NM_177438.3(DICER1):c.3647C>A (p.Ser1216Ter) rs1891128178
NM_177438.3(DICER1):c.5388dup (p.Glu1797fs)
NM_177438.3(DICER1):c.988C>T (p.Gln330Ter) rs1893239532

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