ClinVar Miner

List of variants reported as uncertain significance for bone neoplasm by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr) rs1259370853 0.00002
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_004327.4(BCR):c.1149C>T (p.Pro383=) rs775817981 0.00001
NM_004327.4(BCR):c.685C>T (p.Pro229Ser) rs1441856766 0.00001
NM_032638.5(GATA2):c.208G>T (p.Val70Phe) rs570531959 0.00001
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) rs1722933723
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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