ClinVar Miner

List of variants reported as pathogenic for Wilms tumor 1

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Total variants: 31
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HGVS dbSNP
NC_000023.10:g.(?_132670132)_(132888223_?)del
NC_000023.10:g.(?_132670146)_(133119482_?)del
NC_000023.10:g.(?_132795738)_(133119496_?)del
NC_000023.10:g.(?_132795758)_(132888203_?)del
NC_000023.10:g.(?_132838213)_(132888223_?)del
NC_000023.11:g.(?_133753472)_(133754186_?)del
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) rs122453121
NM_001164617.2(GPC3):c.629_654delinsCTTGCA (p.Asn210fs) rs1556297749
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.595C>T (p.Arg199Ter) rs104894855
NM_004484.4(GPC3):c.1269G>A (p.Trp423Ter)
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter)
NM_004484.4(GPC3):c.271C>T (p.Gln91Ter)
NM_004484.4(GPC3):c.460_463dup (p.Tyr155fs)
NM_004484.4(GPC3):c.513dup (p.Asp172Ter) rs1603240717
NM_004484.4(GPC3):c.80dup (p.Pro28fs) rs1602581162
NM_024426.6(WT1):c.1094del (p.Gly365fs) rs587776574
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702
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.472G>T (p.Glu158Ter) rs1565001383
NM_024426.6(WT1):c.546C>A (p.Tyr182Ter) rs121907911
NM_024426.6(WT1):c.592del (p.Ala198fs) rs1131690795
NM_024426.6(WT1):c.880_882del (p.Tyr294del) rs1554945033
NM_024426.6(WT1):c.893_909del (p.Asn298fs) rs587776573

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