ClinVar Miner

List of variants reported as pathogenic for Wilms tumor 1

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
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_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
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
NM_024426.6(WT1):c.1094del (p.Gly365fs) rs587776574
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.472G>T (p.Glu158Ter) rs1565001383
NM_024426.6(WT1):c.514del (p.Gln172fs) rs2133102575
NM_024426.6(WT1):c.546C>A (p.Tyr182Ter) rs121907911
NM_024426.6(WT1):c.592del (p.Ala198fs) rs1131690795
NM_024426.6(WT1):c.716_722del (p.His239fs)
NM_024426.6(WT1):c.834dup (p.Thr279fs) rs2133072543
NM_024426.6(WT1):c.880_882del (p.Tyr294del) rs1554945033
NM_024426.6(WT1):c.893_909del (p.Asn298fs) rs587776573

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