ClinVar Miner

List of variants reported as uncertain significance for embryonal neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_004304.5(ALK):c.1100C>G (p.Pro367Arg) rs144030155 0.00023
NM_004304.5(ALK):c.1148A>T (p.Lys383Met) rs140928266 0.00020
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_024426.6(WT1):c.124G>A (p.Gly42Ser) rs762288656 0.00019
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855 0.00017
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004304.5(ALK):c.470C>T (p.Pro157Leu) rs775385954 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_005612.5(REST):c.2989A>G (p.Met997Val) rs373733071 0.00011
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_003072.5(SMARCA4):c.1812+3G>A rs371562008 0.00009
NM_003072.5(SMARCA4):c.263C>T (p.Pro88Leu) rs371056395 0.00009
NM_004304.5(ALK):c.1390G>A (p.Gly464Arg) rs55706535 0.00009
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys) rs137983175 0.00007
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00006
NM_003640.5(ELP1):c.3259G>A (p.Ala1087Thr) rs61749203 0.00006
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_177438.3(DICER1):c.248A>G (p.Tyr83Cys) rs373646414 0.00006
NM_004304.5(ALK):c.3031G>A (p.Gly1011Arg) rs587778021 0.00005
NM_004304.5(ALK):c.350C>G (p.Pro117Arg) rs201290745 0.00005
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_003640.5(ELP1):c.3137T>C (p.Val1046Ala) rs1286140759 0.00004
NM_003640.5(ELP1):c.3151A>G (p.Thr1051Ala) rs148548795 0.00004
NM_004304.5(ALK):c.4801G>A (p.Ala1601Thr) rs376702277 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_005612.5(REST):c.1344A>G (p.Ile448Met) rs778247936 0.00004
NM_024426.6(WT1):c.70C>T (p.Arg24Cys) rs878855086 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_000264.5(PTCH1):c.55G>A (p.Gly19Ser) rs778460384 0.00003
NM_003640.5(ELP1):c.1127C>T (p.Thr376Met) rs376671881 0.00003
NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) rs769146127 0.00003
NM_004304.5(ALK):c.298A>G (p.Arg100Gly) rs764559656 0.00003
NM_005762.3(TRIM28):c.380A>G (p.Lys127Arg) rs147833197 0.00003
NM_024426.6(WT1):c.475G>A (p.Glu159Lys) rs768165877 0.00003
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003640.5(ELP1):c.1672A>G (p.Ile558Val) rs772705478 0.00002
NM_003640.5(ELP1):c.2390A>G (p.Tyr797Cys) rs1181862976 0.00002
NM_003640.5(ELP1):c.382A>G (p.Thr128Ala) rs774585995 0.00002
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu) rs964285984 0.00002
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_004304.5(ALK):c.4210C>G (p.Leu1404Val) rs757615099 0.00002
NM_005612.5(REST):c.1902G>A (p.Met634Ile) rs777213931 0.00002
NM_024426.6(WT1):c.736A>G (p.Asn246Asp) rs1285224919 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_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg) rs1412562086 0.00001
NM_003072.5(SMARCA4):c.1007C>T (p.Pro336Leu) rs765058736 0.00001
NM_003072.5(SMARCA4):c.126G>A (p.Met42Ile) rs765325777 0.00001
NM_003072.5(SMARCA4):c.1889G>A (p.Gly630Asp) rs749533909 0.00001
NM_003072.5(SMARCA4):c.271A>C (p.Asn91His) rs755987663 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.4817A>G (p.Gln1606Arg) rs878854231 0.00001
NM_003072.5(SMARCA4):c.983C>T (p.Pro328Leu) rs370097699 0.00001
NM_003073.5(SMARCB1):c.500+6G>C rs772329556 0.00001
NM_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_004304.5(ALK):c.2302G>A (p.Asp768Asn) rs766666105 0.00001
NM_004304.5(ALK):c.699G>A (p.Met233Ile) rs778129557 0.00001
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) rs786201404 0.00001
NM_005612.5(REST):c.1639G>T (p.Val547Leu) rs754696564 0.00001
NM_024426.6(WT1):c.154G>A (p.Glu52Lys) rs1212035248 0.00001
NM_024426.6(WT1):c.284G>T (p.Gly95Val) rs1454795891 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.925G>A (p.Val309Ile) rs1181141404 0.00001
NC_000013.11:g.32396899_32396902delinsTAAG rs1566260060
NC_000022.10:g.24171601-(24180196_?)
NM_000368.5(TSC1):c.2488C>G (p.Gln830Glu) rs1564475884
NM_000455.5(STK11):c.397G>A (p.Val133Met) rs567769257
NM_001370259.2(MEN1):c.262G>T (p.Ala88Ser) rs1565651916
NM_001375883.1(GPR161):c.1231T>C (p.Tyr411His)
NM_001375883.1(GPR161):c.1235C>T (p.Thr412Met)
NM_001375883.1(GPR161):c.1445A>C (p.Glu482Ala)
NM_001375883.1(GPR161):c.1502del (p.Gly501fs) rs766670512
NM_001375883.1(GPR161):c.152C>A (p.Thr51Asn)
NM_001375883.1(GPR161):c.505G>A (p.Val169Met)
NM_001375883.1(GPR161):c.682G>T (p.Val228Phe)
NM_001375883.1(GPR161):c.713G>C (p.Gly238Ala)
NM_003072.5(SMARCA4):c.1813-6_1813-4del rs1864896196
NM_003072.5(SMARCA4):c.212_214dup (p.Gln71_Met72insLys) rs1555751056
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_003072.5(SMARCA4):c.2713C>T (p.Arg905Cys) rs1555778721
NM_003072.5(SMARCA4):c.2788C>T (p.Pro930Ser) rs1600279182
NM_003072.5(SMARCA4):c.812G>T (p.Gly271Val)
NM_003073.5(SMARCB1):c.712G>T (p.Ala238Ser)
NM_003640.5(ELP1):c.1220C>A (p.Thr407Asn)
NM_003640.5(ELP1):c.1456T>C (p.Tyr486His)
NM_003640.5(ELP1):c.14A>G (p.Lys5Arg)
NM_003640.5(ELP1):c.1587C>A (p.His529Gln)
NM_003640.5(ELP1):c.2129A>G (p.Gln710Arg)
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.3071C>T (p.Thr1024Ile)
NM_003640.5(ELP1):c.3433A>G (p.Lys1145Glu)
NM_003640.5(ELP1):c.3769A>G (p.Lys1257Glu)
NM_003640.5(ELP1):c.3840G>C (p.Gln1280His)
NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) rs977172542
NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys) rs1560465720
NM_004304.5(ALK):c.1875T>G (p.Phe625Leu) rs1553402765
NM_004304.5(ALK):c.3116T>C (p.Val1039Ala) rs1663943658
NM_004304.5(ALK):c.3359+4A>G rs1573125072
NM_004304.5(ALK):c.4306C>T (p.Arg1436Cys) rs201129468
NM_004304.5(ALK):c.4442C>T (p.Ser1481Phe) rs1356575388
NM_004304.5(ALK):c.448A>C (p.Ile150Leu) rs1203267790
NM_005612.5(REST):c.1367A>G (p.Asp456Gly)
NM_005612.5(REST):c.1583A>G (p.His528Arg)
NM_005612.5(REST):c.1701G>C (p.Glu567Asp)
NM_005612.5(REST):c.1881G>T (p.Gln627His) rs1720922537
NM_005612.5(REST):c.1882G>A (p.Val628Met)
NM_005762.3(TRIM28):c.1101+8_1101+9dup
NM_005762.3(TRIM28):c.1610C>T (p.Ala537Val)
NM_005762.3(TRIM28):c.161G>T (p.Gly54Val)
NM_005762.3(TRIM28):c.2060C>G (p.Ala687Gly)
NM_005762.3(TRIM28):c.2300G>A (p.Arg767His)
NM_005762.3(TRIM28):c.2394G>T (p.Glu798Asp)
NM_005762.3(TRIM28):c.83G>T (p.Gly28Val)
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) rs760304811
NM_024426.6(WT1):c.70C>G (p.Arg24Gly)
NM_024426.6(WT1):c.790C>T (p.Gln264Ter)
NM_177438.3(DICER1):c.1908-138_2804+645del
NM_177438.3(DICER1):c.2154G>C (p.Glu718Asp) rs1555371628
NM_177438.3(DICER1):c.3357T>A (p.Asp1119Glu)
NM_177438.3(DICER1):c.4374G>A (p.Met1458Ile) rs1488281692
NM_177438.3(DICER1):c.968G>T (p.Gly323Val) rs906299601

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