ClinVar Miner

List of variants in gene MPL reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
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.543T>C (p.Gly181=) rs17572791 0.00819
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.754T>C (p.Tyr252His) rs141311765 0.00124
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.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.1536G>A (p.Leu512=) rs137990502 0.00027
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.209C>T (p.Pro70Leu) rs61754776 0.00021
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.769C>T (p.Arg257Cys) rs121913611 0.00011
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00007
NM_005373.3(MPL):c.318G>A (p.Pro106=) rs370001905 0.00007
NM_005373.3(MPL):c.1446G>A (p.Arg482=) rs1046680606 0.00006
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) rs763568293 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.235_236del (p.Leu79fs) rs587778514 0.00005
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) rs148434485 0.00004
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 0.00004
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe) rs776753502 0.00003
NM_005373.3(MPL):c.1645C>G (p.Leu549Val) rs746440317 0.00002
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile) rs779132175 0.00001
NM_005373.3(MPL):c.1309-1G>T rs1243113655 0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly) rs1328988667 0.00001
NM_005373.3(MPL):c.237G>C (p.Leu79=) rs769101640 0.00001
NM_005373.3(MPL):c.273C>T (p.Tyr91=) rs759361904 0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val) rs780341646 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005373.3(MPL):c.1437C>T (p.Asp479=) rs865799838
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) rs763144679
NM_005373.3(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598

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