ClinVar Miner

List of variants in gene MPL studied for MPL-related disorder

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00170
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 0.00053
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00046
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00023
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.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.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.252G>A (p.Met84Ile) rs769803049 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) rs369156948 0.00004
NM_005373.3(MPL):c.1277G>A (p.Arg426Gln) rs200454070 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005373.3(MPL):c.1242G>A (p.Ser414=) rs544064034 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.120T>C (p.Cys40=) rs747864027 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.1643C>T (p.Ala548Val) rs779404347 0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020 0.00001
NM_005373.3(MPL):c.95C>T (p.Ala32Val) rs886046348 0.00001
NM_005373.3(MPL):c.*10C>T rs1042072149
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.1639G>A (p.Ala547Thr) rs752258550
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) rs759361904
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.408dup (p.Ser137fs)
NM_005373.3(MPL):c.556C>G (p.Gln186Glu) rs121913610
NM_005373.3(MPL):c.663A>G (p.Gly221=) rs1647016206
NM_005373.3(MPL):c.684T>A (p.Ser228Arg) rs766536759

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