ClinVar Miner

List of variants reported as pathogenic for Drash syndrome; Frasier syndrome; Wilms tumor 1; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome by Invitae

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Total variants: 13
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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
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.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.882C>A (p.Tyr294Ter)

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