ClinVar Miner

List of variants reported as likely pathogenic for Hematologic neoplasm

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Total variants: 13
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HGVS dbSNP
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005211.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_005211.3(CSF1R):c.2905T>C (p.Tyr969His) rs121913393
NM_005211.3(CSF1R):c.2906A>G (p.Tyr969Cys) rs1801271
NM_005211.3(CSF1R):c.2906A>T (p.Tyr969Phe) rs1801271
NM_005211.3(CSF1R):c.902T>C (p.Leu301Ser) rs121913390
NM_005211.3(CSF1R):c.903G>T (p.Leu301Phe) rs1057520014
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615

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