ClinVar Miner

List of variants reported as uncertain significance for malignant mixed neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_005612.5(REST):c.2989A>G (p.Met997Val) rs373733071 0.00011
NM_005612.5(REST):c.1344A>G (p.Ile448Met) rs778247936 0.00004
NM_024426.6(WT1):c.70C>T (p.Arg24Cys) rs878855086 0.00004
NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg) rs147833197 0.00003
NM_024426.6(WT1):c.736A>G (p.Asn246Asp) rs1285224919 0.00002
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005612.5(REST):c.1639G>T (p.Val547Leu) rs754696564 0.00001
NM_024426.6(WT1):c.154G>A (p.Glu52Lys) rs1212035248 0.00001
NM_005612.5(REST):c.1367A>G (p.Asp456Gly)
NM_005612.5(REST):c.1583A>G (p.His528Arg)
NM_005612.5(REST):c.1701G>C (p.Glu567Asp)
NM_005612.5(REST):c.1881G>T (p.Gln627His) rs1720922537
NM_005612.5(REST):c.1882G>A (p.Val628Met)
NM_005762.3(TRIM28):c.1101+8_1101+9dup
NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)
NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)
NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)
NM_005762.3(TRIM28):c.2300G>A (p.Arg767His)
NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)
NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) rs760304811
NM_024426.6(WT1):c.70C>G (p.Arg24Gly)
NM_024426.6(WT1):c.790C>T (p.Gln264Ter)

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