ClinVar Miner

List of variants in gene MPL reported as not provided by ITMI

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05134
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005373.3(MPL):c.619G>A (p.Asp207Asn) rs201385967 0.00015
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00002
NM_005373.3(MPL):c.263G>A (p.Gly88Glu) rs587778516 0.00001
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1120_1121delinsGG (p.Thr374Gly) rs587778520
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.530dup (p.Asn178fs) rs587778517
NM_005373.3(MPL):c.733G>A (p.Gly245Arg) rs587778519
NM_005373.3(MPL):c.744_747dup (p.Asn250fs) rs587778518

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