ClinVar Miner

List of variants reported as pathogenic for Wilms tumor type 1 by Invitae

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NC_000011.9:g.(?_32410594)_(32456901_?)del
NC_000011.9:g.(?_32410604)_(32456891_?)del
NC_000011.9:g.(?_32417797)_(32439206_?)del
NC_000023.10:g.(?_132795738)_(133119496_?)del
NC_000023.10:g.(?_132795758)_(132888203_?)del
NM_004484.3(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.3(GPC3):c.1307del (p.Ala436fs) rs1569408743
NM_004484.3(GPC3):c.1471G>T (p.Glu491Ter) rs1569392947
NM_004484.3(GPC3):c.1574-?_*379+?del
NM_004484.3(GPC3):c.513dup (p.Asp172Ter)
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.629_654delinsCTTGCA (p.Asn210fs) rs1556297749
NM_004484.3(GPC3):c.80dup (p.Pro28fs)
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702
NM_024426.6(WT1):c.1149del (p.Val384fs) rs1554939839
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.334del (p.Asp112fs) rs1554946600
NM_024426.6(WT1):c.478C>T (p.Gln160Ter) rs1554946500
NM_024426.6(WT1):c.653del (p.Arg218fs) rs1565000973
NM_024426.6(WT1):c.682dup (p.Asp228fs) rs1554945232
NM_024426.6(WT1):c.812del (p.Pro271fs) rs1060501253
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)

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