ClinVar Miner

List of variants studied for Wilms tumor by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3
H19, 1.43-KB TRIPLICATION
H19, 5.3-KB DEL
NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr) rs122453120
NM_004484.3(GPC3):c.361C>T (p.His121Tyr) rs122453119
NM_005612.4(REST):c.773_776del (p.Val258Alafs) rs869025311
NM_005612.4(REST):c.831_832del (p.Cys278Trpfs) rs869025310
NM_005612.4(REST):c.965A>G (p.His322Arg) rs869025312
NM_007252.3(POU6F2):c.573G>T (p.Gln191His) rs121918261
NM_024426.4(WT1):c.1079delG (p.Gly360Valfs) rs587776574
NM_024426.4(WT1):c.1288C>T (p.Arg430Ter) rs121907906
NM_024426.4(WT1):c.1372C>T (p.Arg458Ter) rs121907909
NM_024426.4(WT1):c.531C>A (p.Tyr177Ter) rs121907911
NM_024426.4(WT1):c.878_894del17 (p.Asn293Ilefs) rs587776573
NR_002196.1(H19):n.-7080_-1781del
POU6F2, C-G, EXON 1C, 5-PRIME UTR

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