ClinVar Miner

List of variants studied for connective tissue neoplasm by St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.319T>G (p.Ser107Ala) rs1485866385
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000059.3(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.8611G>C (p.Glu2871Gln) rs587782860
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) rs143494325
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu) rs757430199
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153
NM_000267.3(NF1):c.1588G>A (p.Val530Ile) rs145191978
NM_000267.3(NF1):c.2747A>G (p.Asn916Ser) rs765043916
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000267.3(NF1):c.4773G>A (p.Arg1591=) rs1555533268
NM_000368.4(TSC1):c.1231C>A (p.Leu411Ile) rs397514840
NM_000368.4(TSC1):c.1355G>C (p.Gly452Ala) rs371093730
NM_000368.4(TSC1):c.3439A>G (p.Ser1147Gly) rs768624733
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del) rs750123656
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221
NM_003924.3(PHOX2B):c.556G>A (p.Glu186Lys) rs1560465720
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1717C>T (p.Gln573Ter) rs1483085748
NM_004304.5(ALK):c.1283-5T>C rs377214413
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155
NM_004329.2(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_004364.4(CEBPA):c.926A>G (p.Glu309Gly) rs1568419235
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696
NM_016169.3(SUFU):c.839G>A (p.Arg280Gln) rs145704867
NM_016734.3(PAX5):c.701T>C (p.Leu234Pro) rs753068558
NM_017849.3(TMEM127):c.121A>G (p.Ile41Val) rs760633411
NM_017849.3(TMEM127):c.31G>T (p.Gly11Cys) rs992633976

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