ClinVar Miner

List of variants studied for connective tissue neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser) rs535980233 0.00043
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_003977.4(AIP):c.974G>A (p.Arg325Gln) rs754619109 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
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_024529.5(CDC73):c.876A>G (p.Arg292=) rs909578765 0.00008
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 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_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_004304.5(ALK):c.2633-3C>T rs200341945 0.00006
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val) rs760633411 0.00006
NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp) rs746522150 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile) rs397514840 0.00003
NM_000368.5(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733 0.00003
NM_001042492.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916 0.00003
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748 0.00003
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) rs768366852 0.00003
NM_207122.2(EXT2):c.626+3A>C rs200934340 0.00003
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_207122.2(EXT2):c.1079+5G>A rs773025398 0.00002
NM_000127.3(EXT1):c.725C>T (p.Pro242Leu) rs906230630 0.00001
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199 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_004304.5(ALK):c.1193A>G (p.Asn398Ser) rs754512910 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_207122.2(EXT2):c.-30-10T>A rs371744028 0.00001
NM_207122.2(EXT2):c.-31+453A>G rs1032612888 0.00001
NM_207122.2(EXT2):c.511G>A (p.Ala171Thr) rs1326355711 0.00001
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000127.3(EXT1):c.1225C>T (p.Gln409Ter)
NM_000127.3(EXT1):c.1481C>T (p.Ser494Phe)
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
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_004304.5(ALK):c.1517T>C (p.Leu506Pro) rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu) rs1217013970
NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter) rs1555742221
NM_004364.5(CEBPA):c.646A>G (p.Thr216Ala) rs1600022240
NM_004364.5(CEBPA):c.926A>G (p.Glu309Gly) rs1568419235
NM_016169.4(SUFU):c.846del (p.Glu283fs)
NM_017849.4(TMEM127):c.31G>T (p.Gly11Cys) rs992633976
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1778del (p.Val593fs)
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.922T>C (p.Tyr308His) rs2135015647

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