ClinVar Miner

List of variants studied for Primary myelofibrosis

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NC_000014.9:g.95696766_96390792dup
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005475.3(SH2B3):c.1325A>C (p.Gln442Pro)
NM_005475.3(SH2B3):c.1566dup (p.Glu523fs)
NM_005475.3(SH2B3):c.603_607del (p.Arg202fs) rs587776885

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