ClinVar Miner

List of variants reported as likely pathogenic for connective tissue neoplasm by Nadeem Sheikh Lab, University of the Punjab

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu) rs1473182680
NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr) rs2145258173
NM_004364.5(CEBPA):c.936G>A (p.Gln312=) rs1248876880
NM_004364.5(CEBPA):c.943C>A (p.Leu315Met) rs2145258835
NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile) rs2145258726

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