ClinVar Miner

List of variants reported as pathogenic 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: 6
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HGVS dbSNP
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) rs587779352
NM_000038.6(APC):c.4473dup (p.Ala1492fs) rs398123122
NM_000267.3(NF1):c.4514+1G>A rs1279529138
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs) rs1567848147
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845

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