ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_132670132)_(132888223_?)del
NC_000023.10:g.(?_132670132)_(133119496_?)del
NC_000023.10:g.(?_132670146)_(132670327_?)del
NC_000023.10:g.(?_132670146)_(133119482_?)del
NC_000023.10:g.(?_132670152)_(132730637_?)del
NC_000023.10:g.(?_132670152)_(132795898_?)del
NC_000023.10:g.(?_132670152)_(132888213_?)del
NC_000023.10:g.(?_132670152)_(133119476_?)del
NC_000023.10:g.(?_132795738)_(133119496_?)del
NC_000023.10:g.(?_132795752)_(132888209_?)del
NC_000023.10:g.(?_132795758)_(132888203_?)del
NC_000023.10:g.(?_132838213)_(132888223_?)del
NC_000023.10:g.(?_133119282)_(133119476_?)del
NC_000023.11:g.(?_133753472)_(133754186_?)del
NM_004484.3(GPC3):c.1574-?_*379+?del
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.4(GPC3):c.1268G>A (p.Trp423Ter)
NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter) rs2071072718
NM_004484.4(GPC3):c.1300C>T (p.Gln434Ter)
NM_004484.4(GPC3):c.1307del (p.Ala436fs) rs1569408743
NM_004484.4(GPC3):c.1337del (p.Asn446fs)
NM_004484.4(GPC3):c.1379_1382del (p.Ser460fs) rs2124401794
NM_004484.4(GPC3):c.1471G>T (p.Glu491Ter) rs1569392947
NM_004484.4(GPC3):c.1569del (p.Ala524fs) rs2124330798
NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr) rs122453120
NM_004484.4(GPC3):c.175+2T>C rs2124655627
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004484.4(GPC3):c.271C>T (p.Gln91Ter) rs2076400400
NM_004484.4(GPC3):c.271del (p.Gln91fs) rs2124634791
NM_004484.4(GPC3):c.332del (p.Phe111fs)
NM_004484.4(GPC3):c.361C>T (p.His121Tyr) rs122453119
NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs) rs2071701505
NM_004484.4(GPC3):c.49del (p.Ser17fs)
NM_004484.4(GPC3):c.513dup (p.Asp172Ter) rs1603240717
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.4(GPC3):c.607del (p.Arg203fs)
NM_004484.4(GPC3):c.629_654delinsCTTGCA (p.Asn210fs) rs1556297749
NM_004484.4(GPC3):c.662del (p.Lys221fs) rs2124480362
NM_004484.4(GPC3):c.80dup (p.Pro28fs) rs1602581162
NM_004484.4(GPC3):c.885C>A (p.Tyr295Ter) rs2124479966
NM_004484.4(GPC3):c.892G>T (p.Glu298Ter) rs2124479949

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