ClinVar Miner

List of variants studied for childhood malignant neoplasm

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.4206+9G>T rs1778057 0.25695
NM_177438.3(DICER1):c.4680G>A (p.Ala1560=) rs61729797 0.03654
NM_177438.3(DICER1):c.3033G>A (p.Ala1011=) rs8019857 0.03643
NM_177438.3(DICER1):c.2997T>G (p.Leu999=) rs12018992 0.01764
NM_177438.3(DICER1):c.3198T>C (p.Thr1066=) rs114964211 0.01414
NM_177438.3(DICER1):c.1935G>A (p.Pro645=) rs61751177 0.00958
NM_177438.3(DICER1):c.1887G>A (p.Thr629=) rs141651702 0.00806
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_177438.3(DICER1):c.5095+13C>T rs116247322 0.00577
NM_177438.3(DICER1):c.5241G>A (p.Ser1747=) rs114861074 0.00539
NM_177438.3(DICER1):c.1377-4T>G rs192490028 0.00240
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_177438.3(DICER1):c.1908-4A>G rs112284114 0.00123
NM_177438.3(DICER1):c.3213A>G (p.Arg1071=) rs148959399 0.00123
NM_177438.3(DICER1):c.5604-12G>A rs149841885 0.00122
NM_177438.3(DICER1):c.*2359_*2360del rs200215778 0.00115
NM_177438.3(DICER1):c.2614G>A (p.Ala872Thr) rs149242330 0.00074
NM_177438.3(DICER1):c.924C>T (p.Ala308=) rs142397473 0.00070
NM_177438.3(DICER1):c.*1894C>T rs540809100 0.00041
NM_177438.3(DICER1):c.3269+14G>A rs201906274 0.00040
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_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_177438.3(DICER1):c.1329C>T (p.Cys443=) rs776143079 0.00004
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_177438.3(DICER1):c.4899A>G (p.Val1633=) rs878855271 0.00003
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_177438.3(DICER1):c.4407T>C (p.Leu1469=) rs540502223 0.00002
NM_177438.3(DICER1):c.4796G>A (p.Arg1599Gln) rs569615549 0.00002
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) rs978856665 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 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.1770T>C (p.Cys590=) rs777355058 0.00001
NM_177438.3(DICER1):c.2553G>A (p.Gln851=) rs373715574 0.00001
NM_177438.3(DICER1):c.2718C>T (p.Arg906=) rs370692165 0.00001
NM_177438.3(DICER1):c.3229G>A (p.Asp1077Asn) rs373412959 0.00001
NM_177438.3(DICER1):c.3269+12C>T rs775380766 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
LMNA-NTRK1 fusion
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
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_000245.4(MET):c.3518C>T (p.Thr1173Ile) rs121913675
NM_000245.4(MET):c.3731A>G (p.Lys1244Arg) rs121913677
NM_000245.4(MET):c.3750G>A (p.Met1250Ile) rs121913676
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) rs1060501191
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_006767.4(LZTR1):c.320+2T>C
NM_016169.4(SUFU):c.846del (p.Glu283fs)
NM_024675.4(PALB2):c.2586G>A (p.Lys862=)
NM_177438.3(DICER1):c.*1448del rs35463377
NM_177438.3(DICER1):c.*1448dup rs35463377
NM_177438.3(DICER1):c.*1449_*1450insT rs886050934
NM_177438.3(DICER1):c.*1716TG[1] rs35500699
NM_177438.3(DICER1):c.*2379dup rs140355178
NM_177438.3(DICER1):c.*2751GAT[1] rs573135025
NM_177438.3(DICER1):c.*2964del rs537009606
NM_177438.3(DICER1):c.*326del rs35649919
NM_177438.3(DICER1):c.1330G>T (p.Gly444Ter)
NM_177438.3(DICER1):c.1507G>T (p.Glu503Ter) rs137852977
NM_177438.3(DICER1):c.1510-4del rs546524688
NM_177438.3(DICER1):c.1510-4dup rs546524688
NM_177438.3(DICER1):c.1525C>T (p.Arg509Ter) rs886037672
NM_177438.3(DICER1):c.1630C>T (p.Arg544Ter) rs137852979
NM_177438.3(DICER1):c.1908-138_2804+645del
NM_177438.3(DICER1):c.1966C>T (p.Arg656Ter) rs754081635
NM_177438.3(DICER1):c.2026C>T (p.Arg676Ter) rs878855246
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.2392dup (p.Thr798fs) rs886037690
NM_177438.3(DICER1):c.2613C>T (p.Asp871=) rs759827733
NM_177438.3(DICER1):c.2773G>T (p.Glu925Ter) rs1891554648
NM_177438.3(DICER1):c.2830C>T (p.Arg944Ter) rs137852978
NM_177438.3(DICER1):c.3007C>T (p.Arg1003Ter) rs1060503605
NM_177438.3(DICER1):c.3093+1G>A
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+7_4206+8dup rs1555368535
NM_177438.3(DICER1):c.4206+9_4206+21delinsT rs886050941
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile) rs1488281692
NM_177438.3(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_177438.3(DICER1):c.4608T>C (p.Gly1536=) rs1890331241
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.4807C>T (p.Leu1603=) rs201320420
NM_177438.3(DICER1):c.4849del (p.Leu1617fs)
NM_177438.3(DICER1):c.5038A>G (p.Lys1680Glu) rs1060503639
NM_177438.3(DICER1):c.5171C>T (p.Pro1724Leu) rs749900564
NM_177438.3(DICER1):c.5365-4A>G
NM_177438.3(DICER1):c.5477C>A (p.Ser1826Ter) rs1595314576
NM_177438.3(DICER1):c.5494dup (p.Gln1832fs)
NM_177438.3(DICER1):c.5527+3A>G rs1595313951
NM_177438.3(DICER1):c.5670del (p.Phe1890fs)
NM_177438.3(DICER1):c.625A>G (p.Ile209Val) rs2140260977
NM_177438.3(DICER1):c.904-1G>C rs1566803555
NM_177438.3(DICER1):c.906dup (p.Leu303fs)
NM_177438.3(DICER1):c.968G>T (p.Gly323Val) rs906299601
RBPMS-MET fusion

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