ClinVar Miner

List of variants reported as uncertain significance for connective tissue neoplasm by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.4074_4075delinsAA (p.Pro1359Thr) rs1555617362
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120

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