ClinVar Miner

List of variants reported as not provided for bone marrow neoplasm

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser) rs530569305 0.00031
NM_004119.3(FLT3):c.2211G>C (p.Met737Ile) rs148592477 0.00025
NM_004972.4(JAK2):c.2571+5A>C rs775085241 0.00004
NM_004327.4(BCR):c.2699A>G (p.Asn900Ser) rs752530462 0.00002
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu) rs724159947
NM_004327.4(BCR):c.2707+21G>T rs527236142
NM_004327.4(BCR):c.2750T>A (p.Val917Asp) rs527236143
NM_004364.5(CEBPA):c.141del (p.Ala48fs) rs137852730
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs) rs2145264004
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser) rs1967196253
NM_004364.5(CEBPA):c.158del (p.Gly53fs) rs2145264074
NM_004364.5(CEBPA):c.189del (p.Asp63fs) rs2145263853
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs) rs2145263088
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter) rs1388478228
NM_004364.5(CEBPA):c.68del (p.Pro23fs) rs137852728
NM_004364.5(CEBPA):c.68dup (p.His24fs) rs137852728
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro) rs2145258913
NM_005157.6(ABL1):c.949T>C (p.Phe317Leu) rs1057519773
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040

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