ClinVar Miner

List of variants in gene GPC3 reported as pathogenic for Wilms tumor type 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
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.1705G>A (p.Ala569Thr) rs122453120
NM_004484.3(GPC3):c.361C>T (p.His121Tyr) rs122453119
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)

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