ClinVar Miner

List of variants reported as likely benign for embryonal neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001365951.3(KIF1B):c.3423-15del rs3215996 0.03458
NM_016169.4(SUFU):c.*1675G>A rs41287466 0.03346
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_004304.5(ALK):c.-273G>C rs72857538 0.01192
NM_016169.4(SUFU):c.*3086A>G rs73342651 0.01014
NM_016169.4(SUFU):c.*1672A>G rs117196884 0.01007
NM_016169.4(SUFU):c.*205G>A rs115428806 0.00961
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_016169.4(SUFU):c.*3290C>G rs112808377 0.00612
NM_016169.4(SUFU):c.-33C>T rs201649559 0.00587
NM_024426.6(WT1):c.*897G>C rs5030324 0.00520
NM_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_016169.4(SUFU):c.*2157C>T rs181690906 0.00474
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_016169.4(SUFU):c.12G>A (p.Leu4=) rs189234140 0.00425
NM_001365951.3(KIF1B):c.*4325G>A rs141688466 0.00419
NM_016169.4(SUFU):c.*2720C>T rs41287468 0.00417
NM_016169.4(SUFU):c.*505T>G rs116570216 0.00412
NM_024426.6(WT1):c.*542G>A rs142726499 0.00380
NM_016169.4(SUFU):c.*2172G>A rs540579682 0.00367
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00317
NM_016169.4(SUFU):c.*3268G>C rs150653416 0.00308
NM_001365951.3(KIF1B):c.*4113C>T rs192312673 0.00285
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_016169.4(SUFU):c.*61G>A rs184505927 0.00249
NM_001365951.3(KIF1B):c.*3930C>T rs549049444 0.00216
NM_004304.5(ALK):c.-619G>A rs138384829 0.00190
NM_024426.6(WT1):c.*138G>A rs111351882 0.00165
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_001365951.3(KIF1B):c.*3035G>A rs41301987 0.00126
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_177438.3(DICER1):c.*2359_*2360del rs200215778 0.00115
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_001365951.3(KIF1B):c.*1238G>A rs539372635 0.00058
NM_004304.5(ALK):c.1234C>T (p.Arg412Cys) rs147102592 0.00053
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_004304.5(ALK):c.106C>T (p.Pro36Ser) rs201490095 0.00045
NM_001365951.3(KIF1B):c.1435-15C>T rs371838261 0.00044
NM_177438.3(DICER1):c.*1894C>T rs540809100 0.00041
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_004304.5(ALK):c.2451C>T (p.Gly817=) rs183314518 0.00039
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_001365951.3(KIF1B):c.*2019C>T rs185749715 0.00037
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_024426.6(WT1):c.*12C>T rs77462662 0.00034
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=) rs145846362 0.00031
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_004304.5(ALK):c.3102G>A (p.Ser1034=) rs138771319 0.00029
NM_003073.5(SMARCB1):c.*15C>A rs369400289 0.00028
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) rs201768549 0.00028
NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser) rs372612147 0.00026
NM_001365951.3(KIF1B):c.*1117C>T rs182518399 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_004304.5(ALK):c.3633C>A (p.Thr1211=) rs144437923 0.00021
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=) rs140229905 0.00019
NM_016169.4(SUFU):c.*2140G>T rs543282016 0.00019
NM_004304.5(ALK):c.3085C>G (p.Pro1029Ala) rs543328121 0.00018
NM_016169.4(SUFU):c.1308C>T (p.Thr436=) rs142029957 0.00018
NM_001365951.3(KIF1B):c.*4238G>T rs544754092 0.00017
NM_001365951.3(KIF1B):c.1955C>T (p.Thr652Ile) rs142881321 0.00017
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln) rs373439616 0.00017
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_001365951.3(KIF1B):c.429+7A>G rs370895789 0.00015
NM_004304.5(ALK):c.4275G>A (p.Leu1425=) rs749418931 0.00015
NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=) rs143112560 0.00014
NM_001365951.3(KIF1B):c.4820G>A (p.Cys1607Tyr) rs145969842 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004304.5(ALK):c.1626G>C (p.Pro542=) rs143916398 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_004304.5(ALK):c.597C>T (p.Gly199=) rs200868013 0.00012
NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg) rs140015591 0.00011
NM_004304.5(ALK):c.2928C>T (p.His976=) rs75895956 0.00011
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_004304.5(ALK):c.2632+8G>A rs199653862 0.00009
NM_001365951.3(KIF1B):c.*3418C>T rs559140260 0.00008
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_004304.5(ALK):c.72G>A (p.Gly24=) rs756782371 0.00008
NM_001365951.3(KIF1B):c.5409-15G>A rs371830018 0.00007
NM_004304.5(ALK):c.4473G>A (p.Lys1491=) rs148987382 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_001365951.3(KIF1B):c.*4041C>G rs539967376 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_004304.5(ALK):c.3030C>T (p.His1010=) rs367642503 0.00005
NM_001365951.3(KIF1B):c.*1715G>T rs755083691 0.00004
NM_001365951.3(KIF1B):c.4282G>A (p.Gly1428Ser) rs754234374 0.00004
NM_004304.5(ALK):c.2210C>T (p.Ser737Leu) rs368581969 0.00004
NM_004304.5(ALK):c.2598G>A (p.Ser866=) rs56304041 0.00004
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091 0.00004
NM_004304.5(ALK):c.4433T>C (p.Met1478Thr) rs141010693 0.00004
NM_004304.5(ALK):c.-32G>A rs771429852 0.00003
NM_004304.5(ALK):c.386G>T (p.Gly129Val) rs760041708 0.00003
NM_004304.5(ALK):c.872G>A (p.Arg291His) rs572340007 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_001365951.3(KIF1B):c.-127G>A rs528568887 0.00001
NM_001365951.3(KIF1B):c.4155G>T (p.Leu1385Phe) rs760253167 0.00001
NM_001365951.3(KIF1B):c.4544G>A (p.Arg1515His) rs375130478 0.00001
NM_004304.5(ALK):c.384G>A (p.Lys128=) rs753267950 0.00001
NM_001365951.3(KIF1B):c.*3352G>C rs567769024
NM_001365951.3(KIF1B):c.*375A>G rs554239975
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=) rs530566864
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.4977T>C (p.Ser1659=) rs778240671
NM_003924.4(PHOX2B):c.*12GCG[4] rs763380864
NM_003924.4(PHOX2B):c.*549dup rs201654270
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_004304.5(ALK):c.-156G>T rs141444957
NM_004304.5(ALK):c.-313C>G rs72857540
NM_004304.5(ALK):c.-677G>A rs368770999
NM_016169.4(SUFU):c.*2150G>A rs561461171
NM_016169.4(SUFU):c.*742G>A rs142145337
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397
NM_177438.3(DICER1):c.*2751GAT[1] rs573135025
NM_177438.3(DICER1):c.1510-4del rs546524688
NM_177438.3(DICER1):c.1510-4dup rs546524688
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260

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