ClinVar Miner

List of variants reported as benign for WAGR syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_019040.5(ELP4):c.*3208C>T rs608293 0.88020
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797 0.87931
NM_019040.5(ELP4):c.*5226T>A rs1506 0.72043
NM_019040.5(ELP4):c.*2452C>T rs3026401 0.70691
NM_019040.5(ELP4):c.*4250C>T rs12421026 0.42881
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NM_019040.5(ELP4):c.*3703G>A rs3026398 0.22983
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NR_120546.1(WT1-AS):n.1873G>A rs6508 0.16158
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_019040.5(ELP4):c.*3998C>T rs662702 0.14929
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_019040.5(ELP4):c.*2114C>G rs16922475 0.05615
NM_019040.5(ELP4):c.*3509A>G rs542906080 0.04927
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_019040.5(ELP4):c.*2673_*2674del rs141022497 0.02792
NM_019040.5(ELP4):c.*4105C>T rs73477656 0.02650
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_019040.5(ELP4):c.*3851C>T rs141344418 0.00935
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_019040.5(ELP4):c.*4172A>C rs73477658 0.00701
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*5347T>C rs117590302 0.00220
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp) rs372225738 0.00006
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.965+14T>C rs369920807 0.00004
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_019040.5(ELP4):c.*1811A>C rs185968715
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_024426.6(WT1):c.1017-20dup
NM_024426.6(WT1):c.1122A>C (p.Arg374=) rs16754
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397
NM_024426.6(WT1):c.888-8dup

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