ClinVar Miner

List of variants reported as uncertain significance for childhood malignant neoplasm

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_020975.6(RET):c.2657G>A (p.Arg886Gln) rs373594744 0.00009
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys) rs373646414 0.00006
NM_177438.3(DICER1):c.*1395_*1396del rs756671135 0.00005
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp) rs774271782 0.00004
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val) rs564224919 0.00004
NM_177438.3(DICER1):c.3422C>T (p.Ser1141Phe) rs780815020 0.00004
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_177438.3(DICER1):c.1377-18T>A rs1032236740 0.00002
NM_177438.3(DICER1):c.2378A>G (p.Tyr793Cys) rs527568726 0.00002
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) rs978856665 0.00001
NM_004304.5(ALK):c.623T>C (p.Ile208Thr) rs372226787 0.00001
NM_006231.4(POLE):c.5633G>A (p.Arg1878His) rs374022997 0.00001
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn) rs373412959 0.00001
NM_177438.3(DICER1):c.4675A>G (p.Ile1559Val) rs377409989 0.00001
NM_177438.3(DICER1):c.920G>A (p.Arg307His) rs149718671 0.00001
NM_177438.3(DICER1):c.925G>A (p.Val309Ile) rs1181141404 0.00001
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) rs786204282
NM_000075.4(CDK4):c.683+8A>T rs1446831422
NM_000135.4(FANCA):c.1081A>G (p.Arg361Gly)
NM_000135.4(FANCA):c.3659C>T (p.Pro1220Leu)
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
NM_001321821.2(RAD51B):c.1275_1276dup (p.Ter426CysextTer?) rs1410470158
NM_005896.4(IDH1):c.976T>C (p.Ser326Pro) rs185564694
NM_006618.5(KDM5B):c.1536C>G (p.His512Gln)
NM_024675.4(PALB2):c.2586G>A (p.Lys862=)
NM_177438.3(DICER1):c.*1448del rs35463377
NM_177438.3(DICER1):c.*1449_*1450insT rs886050934
NM_177438.3(DICER1):c.*2964del rs537009606
NM_177438.3(DICER1):c.*326del rs35649919
NM_177438.3(DICER1):c.1908-138_2804+645del
NM_177438.3(DICER1):c.209_210inv (p.Lys70Thr)
NM_177438.3(DICER1):c.2154G>C (p.Glu718Asp) rs1555371628
NM_177438.3(DICER1):c.2210C>T (p.Pro737Leu) rs1595391071
NM_177438.3(DICER1):c.3094-8_3094-5del rs770904411
NM_177438.3(DICER1):c.3357T>A (p.Asp1119Glu)
NM_177438.3(DICER1):c.3713T>C (p.Leu1238Pro) rs1060503603
NM_177438.3(DICER1):c.4206+9_4206+21delinsT rs886050941
NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile) rs1488281692
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu) rs749900564
NM_177438.3(DICER1):c.5670del (p.Phe1890fs)
NM_177438.3(DICER1):c.625A>G (p.Ile209Val) rs2140260977
NM_177438.3(DICER1):c.968G>T (p.Gly323Val) rs906299601

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