ClinVar Miner

List of variants reported as likely pathogenic for Myeloproliferative disorder by Database of Curated Mutations (DoCM)

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp) rs1057519802
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu) rs368927897
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn) rs1057520016

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