ClinVar Miner

List of variants studied for obsolete DICER1 syndrome by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661 0.00070
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_177438.3(DICER1):c.4804G>A (p.Ala1602Thr) rs145669719 0.00011
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro) rs372967646 0.00011
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr) rs200408568 0.00006
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu) rs201358110 0.00004
NM_177438.3(DICER1):c.3371A>C (p.His1124Pro) rs534996867 0.00001
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys) rs549532374 0.00001
NM_177438.3(DICER1):c.1883A>C (p.Asn628Thr) rs756051157
NM_177438.3(DICER1):c.2504_2505dup (p.Phe836fs) rs2140025659
NM_177438.3(DICER1):c.3270-1G>C rs2139972425
NM_177438.3(DICER1):c.4206+9GT[15] rs71838494
NM_177438.3(DICER1):c.4841A>G (p.Gln1614Arg) rs769225805

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