List of variants reported as pathogenic for Wilms tumor 1 by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 92

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HGVS	dbSNP	gnomAD frequency
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_000011.10:g.(?_32389048)_(32435355_?)del
NC_000011.10:g.(?_32389058)_(32435345_?)del
NC_000011.10:g.(?_32396247)_(32400054_?)del
NC_000011.10:g.(?_32396251)_(32417660_?)del
NC_000011.10:g.(?_32434690)_(32435345_?)del
NC_000011.10:g.32396408del	rs2132942367
NC_000011.9:g.(?_31284590)_(32456911_?)del
NC_000011.9:g.(?_32410604)_(32460464_?)del
NC_000011.9:g.(?_32421484)_(32421600_?)del
NC_000011.9:g.(?_32456236)_(32460464_?)del
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.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.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.1029del (p.Tyr344fs)
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs)	rs2132942163
NM_024426.6(WT1):c.1149del (p.Val384fs)	rs1554939839
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter)	rs2132939500
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
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.1338C>A (p.His446Gln)	rs121907907
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)	rs28942089
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
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+4C>T	rs587776577
NM_024426.6(WT1):c.1447+5G>A	rs587776576
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln)	rs1590326226
NM_024426.6(WT1):c.225del (p.Ser76fs)
NM_024426.6(WT1):c.275dup (p.Gly93fs)
NM_024426.6(WT1):c.276del (p.Gly93fs)	rs2133105444
NM_024426.6(WT1):c.314_318dup (p.Trp107fs)	rs2133104877
NM_024426.6(WT1):c.334del (p.Asp112fs)	rs1554946600
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
NM_024426.6(WT1):c.455del (p.Gly152fs)	rs2133103216
NM_024426.6(WT1):c.478C>T (p.Gln160Ter)	rs1554946500
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
NM_024426.6(WT1):c.653del (p.Arg218fs)	rs1565000973
NM_024426.6(WT1):c.682dup (p.Asp228fs)	rs1554945232
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter)	rs2133073037
NM_024426.6(WT1):c.812del (p.Pro271fs)	rs1060501253
NM_024426.6(WT1):c.834del (p.Thr279fs)
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter)	rs1554945031
NM_024426.6(WT1):c.882_887+3del	rs2133072022
NM_024426.6(WT1):c.897del (p.Leu299fs)	rs1852720329
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)

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