ClinVar Miner

List of variants reported as pathogenic for Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 57
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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.(?_32410601)_(32421600_?)del
NC_000011.9:g.(?_32410604)_(32460464_?)del
NC_000011.9:g.(?_32421474)_(32439220_?)del
NC_000011.9:g.(?_32421484)_(32421600_?)del
NC_000011.9:g.(?_32438026)_(32460464_?)del
NC_000011.9:g.(?_32449492)_(32450175_?)del
NC_000011.9:g.(?_32456236)_(32460464_?)del
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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