ClinVar Miner

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

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_004364.5(CEBPA):c.-39C>A rs41434054 0.00082
NM_003265.3(TLR3):c.554C>T (p.Ala185Val) rs35140061 0.00048
NM_001754.5(RUNX1):c.952T>G (p.Ser318Ala) rs545554349 0.00013
NM_030930.4(UNC93B1):c.1785G>C (p.Glu595Asp) rs761443098 0.00013
NM_002074.5(GNB1):c.402C>T (p.Arg134=) rs560214051 0.00011
NM_182919.4(TICAM1):c.1238G>A (p.Arg413Gln) rs372838204 0.00007
NM_030930.4(UNC93B1):c.148C>A (p.Arg50Ser) rs934872284 0.00004
NM_002485.5(NBN):c.897-2A>T rs864622090 0.00003
NM_004327.4(BCR):c.2356G>A (p.Ala786Thr) rs1259370853 0.00002
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 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_001754.5(RUNX1):c.386dup (p.Val130fs)
NM_002485.5(NBN):c.260T>C (p.Phe87Ser) rs786203573
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_145725.3(TRAF3):c.568C>A (p.Gln190Lys) rs1005450366
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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