ClinVar Miner

List of variants in gene MPL studied for not specified

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Gene type:
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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.981-41G>A rs1760670 0.31103
NM_005373.3(MPL):c.690A>G (p.Glu230=) rs16830693 0.05049
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01329
NM_005373.3(MPL):c.1309-10C>T rs139486615 0.00561
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00452
NM_005373.3(MPL):c.391+47C>T rs839994 0.00367
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00334
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00189
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00170
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00125
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00053
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) rs117656396 0.00053
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.1197G>A (p.Arg399=) rs148945299 0.00039
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00023
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.1063A>G (p.Lys355Glu) rs546510242 0.00017
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) rs142737453 0.00017
NM_005373.3(MPL):c.1468+37G>A rs886038562 0.00016
NM_005373.3(MPL):c.619G>A (p.Asp207Asn) rs201385967 0.00015
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
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.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.1609C>T (p.Arg537Trp) rs148784027 0.00003
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00003
NM_005373.3(MPL):c.398C>T (p.Pro133Leu) rs371227552 0.00003
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.1053C>T (p.Arg351=) rs753608517 0.00001
NM_005373.3(MPL):c.1115C>T (p.Pro372Leu) rs1452302891 0.00001
NM_005373.3(MPL):c.1327G>C (p.Gly443Arg) rs895171793 0.00001
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.185C>T (p.Thr62Ile) rs201727975 0.00001
NM_005373.3(MPL):c.263G>A (p.Gly88Glu) rs587778516 0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr) rs1313333589 0.00001
NM_005373.3(MPL):c.1120_1121delinsGG (p.Thr374Gly) rs587778520
NM_005373.3(MPL):c.1162G>T (p.Ala388Ser)
NM_005373.3(MPL):c.1241C>T (p.Ser414Leu)
NM_005373.3(MPL):c.1513A>C (p.Ser505Arg) rs1057519752
NM_005373.3(MPL):c.1539G>A (p.Leu513=)
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.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.399G>A (p.Pro133=) rs768283382
NM_005373.3(MPL):c.407C>T (p.Pro136Leu) rs764904424
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
NM_005373.3(MPL):c.787A>T (p.Ile263Phe) rs1165926000
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.3(MPL):c.867G>A (p.Leu289=)

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