ClinVar Miner

List of variants in gene MPL studied for anemia (disease)

Included ClinVar conditions (262):
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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
MPL, 1-BP DEL, 1499T
MPL, IVS10AS, G-T, -1
NC_000001.10:g.(?_43814924)_(43815040_?)del
NM_005373.2(MPL):c.*1054G>A rs139528456
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1116G>A rs144177827
NM_005373.2(MPL):c.*1126A>G rs543250497
NM_005373.2(MPL):c.*1180G>A rs117166528
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1486T>C rs149940158
NM_005373.2(MPL):c.*1506G>A rs115780311
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*1603A>C rs142139493
NM_005373.2(MPL):c.*1674A>T rs536844021
NM_005373.2(MPL):c.*364C>T rs138892634
NM_005373.2(MPL):c.*400C>T rs558390922
NM_005373.2(MPL):c.*573G>A rs192016153
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*662C>T rs1763698
NM_005373.2(MPL):c.*701_*705dupTTTTT rs752218261
NM_005373.2(MPL):c.*705delT rs752218261
NM_005373.2(MPL):c.*709C>T rs185654501
NM_005373.2(MPL):c.*748C>T rs190071085
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*94C>A rs77858532
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1003G>A (p.Glu335Lys) rs139770726
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter)
NM_005373.2(MPL):c.1102G>T (p.Val368Leu) rs149810307
NM_005373.2(MPL):c.1120A>G (p.Thr374Ala) rs190983971
NM_005373.2(MPL):c.1178C>T (p.Thr393Ile)
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter)
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1303T>A (p.Trp435Arg) rs1553128241
NM_005373.2(MPL):c.1309-10C>T rs139486615
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile)
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter)
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.1473G>A (p.Trp491Ter) rs121913613
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys)
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005373.2(MPL):c.1565+5C>T rs41269541
NM_005373.2(MPL):c.1570C>T (p.Leu524=) rs146372205
NM_005373.2(MPL):c.1609C>T (p.Arg537Trp) rs148784027
NM_005373.2(MPL):c.1653+1delG rs755257605
NM_005373.2(MPL):c.1653+3G>A rs149625825
NM_005373.2(MPL):c.1654-10T>A rs200460456
NM_005373.2(MPL):c.1666G>T (p.Val556Phe) rs150004498
NM_005373.2(MPL):c.173C>T (p.Ala58Val) rs6087
NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) rs770402221
NM_005373.2(MPL):c.1794C>T (p.Cys598=) rs143457144
NM_005373.2(MPL):c.1803C>T (p.Thr601=) rs140794721
NM_005373.2(MPL):c.1805T>C (p.Met602Thr)
NM_005373.2(MPL):c.1904C>T (p.Pro635Leu) rs121913612
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.209C>T (p.Pro70Leu) rs61754776
NM_005373.2(MPL):c.210G>A (p.Pro70=) rs6086
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys)
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.311T>C (p.Phe104Ser)
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.340G>A (p.Val114Met) rs12731981
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.543T>C (p.Gly181=) rs17572791
NM_005373.2(MPL):c.556C>T (p.Gln186Ter) rs121913610
NM_005373.2(MPL):c.655C>G (p.Gln219Glu) rs142737453
NM_005373.2(MPL):c.677C>A (p.Ser226Tyr) rs141063159
NM_005373.2(MPL):c.690+11C>T rs144769485
NM_005373.2(MPL):c.690A>G (p.Glu230=) rs16830693
NM_005373.2(MPL):c.754T>C (p.Tyr252His) rs141311765
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.2(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005373.2(MPL):c.793C>T (p.Leu265Phe) rs117656396
NM_005373.2(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.854-3T>C rs201514537
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_005373.2(MPL):c.962G>A (p.Arg321Gln) rs149265851
NM_005373.2(MPL):c.972del (p.Arg325fs) rs770457041
NM_005373.2(MPL):c.981-1G>C

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