ClinVar Miner

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

Included ClinVar conditions (115):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003640.5(ELP1):c.1364A>G (p.Asp455Gly) rs149685738 0.00084
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_003640.5(ELP1):c.1913C>T (p.Ala638Val) rs144370288 0.00048
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_001754.5(RUNX1):c.155T>A (p.Met52Lys) rs200431130 0.00028
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836 0.00016
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_003640.5(ELP1):c.2498A>C (p.His833Pro) rs201714373 0.00012
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_003640.5(ELP1):c.1073G>A (p.Arg358Gln) rs139091484 0.00011
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_003640.5(ELP1):c.520G>A (p.Glu174Lys) rs758924768 0.00010
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu) rs149277592 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_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_003977.4(AIP):c.205A>G (p.Lys69Glu) rs141223463 0.00008
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_003640.5(ELP1):c.2578G>A (p.Glu860Lys) rs137983175 0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 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_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_004168.4(SDHA):c.453C>A (p.Val151=) rs138917116 0.00006
NM_004304.5(ALK):c.2633-3C>T rs200341945 0.00006
NM_020975.6(RET):c.604G>A (p.Val202Met) rs751572082 0.00006
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 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_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_004656.4(BAP1):c.1147C>T (p.Arg383Cys) rs201844078 0.00004
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys) rs532255760 0.00004
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 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_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) rs768366852 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_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847 0.00002
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 0.00001
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser) rs754507551 0.00001
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala) rs371093730 0.00001
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=) rs1555533268 0.00001
NM_001375883.1(GPR161):c.1196A>G (p.Gln399Arg) rs1412562086 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798 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_003640.5(ELP1):c.2951A>G (p.Gln984Arg) rs371186754 0.00001
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083 0.00001
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser) rs754512910 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NC_000013.11:g.32396899_32396902delinsTAAG rs1566260060
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_001042492.3(NF1):c.1888G>A (p.Val630Ile) rs751795238
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_003000.3(SDHB):c.716C>T (p.Ser239Phe) rs201098090
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_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.787+10G>A rs776322323
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) rs1365359024
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro) rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu) rs1217013970

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