ClinVar Miner

List of variants reported as pathogenic for connective tissue neoplasm by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_004364.4(CEBPA):c.119dup (p.Gln41fs) rs1555742295
NM_004364.5(CEBPA):c.332_339del rs1555742213
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562

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