ClinVar Miner

List of variants studied for bone cancer by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
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_001042492.3(NF1):c.3827G>A (p.Arg1276Gln) rs137854556 0.00001
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 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.1081C>T (p.Arg361Cys) rs1426175410 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.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu) rs1131691103
NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)
NM_001042492.3(NF1):c.6897del (p.Lys2300fs)
NM_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198253.3(TERT):c.2007G>A (p.Arg669=) rs1060504788
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.902G>A (p.Arg301His) rs1268051204

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