ClinVar Miner

List of variants in gene MPL reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.981-41G>A rs1760670 0.31867
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.1309-10C>T rs139486615 0.00602
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.210G>A (p.Pro70=) rs6086 0.00482
NM_005373.3(MPL):c.1653+3G>A rs149625825 0.00367
NM_005373.3(MPL):c.391+47C>T rs839994 0.00367
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
NM_005373.3(MPL):c.962G>A (p.Arg321Gln) rs149265851 0.00072
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) rs139770726 0.00059
NM_005373.3(MPL):c.1488C>T (p.Thr496=) rs140091584 0.00056
NM_005373.3(MPL):c.1570C>T (p.Leu524=) rs146372205 0.00055
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005373.3(MPL):c.1794C>T (p.Cys598=) rs143457144 0.00025
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_005373.3(MPL):c.1468+37G>A rs886038562 0.00016
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.1051C>T (p.Arg351Cys) rs201998783 0.00005
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.120T>C (p.Cys40=) rs747864027 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005373.3(MPL):c.1242G>A (p.Ser414=) rs544064034 0.00001
NM_005373.3(MPL):c.95C>T (p.Ala32Val) rs886046348 0.00001
NM_005373.3(MPL):c.*10C>T
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.3(MPL):c.1277G>A (p.Arg426Gln)
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs) rs1292577132
NM_005373.3(MPL):c.131C>T (p.Thr44Ile) rs772445486
NM_005373.3(MPL):c.1643C>T (p.Ala548Val)
NM_005373.3(MPL):c.252G>A (p.Met84Ile)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
NM_005373.3(MPL):c.684T>A (p.Ser228Arg)

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