ClinVar Miner

List of variants in gene MPL reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00046
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242 0.00017
NM_005373.3(MPL):c.224G>A (p.Arg75His) rs148276667 0.00011
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00010
NM_005373.3(MPL):c.983A>G (p.Tyr328Cys) rs781482698 0.00003
NM_005373.3(MPL):c.775G>A (p.Glu259Lys) rs528834914 0.00002
NM_005373.3(MPL):c.1115C>T (p.Pro372Leu) rs1452302891 0.00001
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822 0.00001
NM_005373.3(MPL):c.1513A>C (p.Ser505Arg) rs1057519752
NM_005373.3(MPL):c.1633G>A (p.Asp545Asn) rs937591117
NM_005373.3(MPL):c.1799G>A (p.Gly600Glu) rs2153920091
NM_005373.3(MPL):c.242C>T (p.Ser81Phe) rs2153916442
NM_005373.3(MPL):c.787A>T (p.Ile263Phe) rs1165926000

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