ClinVar Miner

List of variants reported as benign for bone cancer by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_001754.5(RUNX1):c.351+15A>G rs199881885 0.00396
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940

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