List of variants in gene MPL reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.340G>A (p.Val114Met)	rs12731981	0.02191
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	rs28928907	0.00035
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_005373.3(MPL):c.391+5G>C	rs752453717	0.00012
NM_005373.3(MPL):c.769C>T (p.Arg257Cys)	rs121913611	0.00011
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	rs763568293	0.00006
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)	rs754859909	0.00003
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)	rs148784027	0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs)	rs1291157023	0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)	rs144210383	0.00003
NM_005373.3(MPL):c.212+1G>A	rs142565191	0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	rs758428763	0.00002
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)	rs1006158872	0.00001
NM_005373.3(MPL):c.1309-1G>T	rs1243113655	0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	rs1169744090	0.00001
NM_005373.3(MPL):c.1566-1G>A	rs1570474015	0.00001
NM_005373.3(MPL):c.1653+2T>C	rs1257156248	0.00001
NM_005373.3(MPL):c.1671dup (p.Asp558fs)	rs1647100516	0.00001
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)	rs770402221	0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter)	rs755447085	0.00001
NM_005373.3(MPL):c.263G>A (p.Gly88Glu)	rs587778516	0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)	rs1196161699	0.00001
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020	0.00001
NM_005373.3(MPL):c.391G>A (p.Gly131Ser)	rs775250202	0.00001
NM_005373.3(MPL):c.981-1G>C	rs769297582	0.00001
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter)	rs139770726
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)	rs2153918515
NM_005373.3(MPL):c.1035_1042del (p.Thr346fs)
NM_005373.3(MPL):c.1058del (p.His353fs)	rs2545682548
NM_005373.3(MPL):c.1095del (p.Val366fs)
NM_005373.3(MPL):c.1145_1146insAAGGATGTGAATAA (p.Pro382_Phe383insArgMetTer)	rs2545682776
NM_005373.3(MPL):c.1145del (p.Pro382fs)	rs759135440
NM_005373.3(MPL):c.1165+1G>C	rs775550081
NM_005373.3(MPL):c.1166-1G>C	rs2153918730
NM_005373.3(MPL):c.1166_1169dup
NM_005373.3(MPL):c.1192del (p.Trp398fs)	rs1647059319
NM_005373.3(MPL):c.1270_1271del (p.Gln424fs)	rs2545683255
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg)	rs1553128241
NM_005373.3(MPL):c.1308+2T>G	rs1570470323
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)	rs1292577132
NM_005373.3(MPL):c.1365_1366del (p.Arg456fs)
NM_005373.3(MPL):c.1385_1389del (p.Arg462fs)	rs2545685014
NM_005373.3(MPL):c.1454C>T (p.Thr485Ile)	rs974626632
NM_005373.3(MPL):c.1468+1G>A	rs2153919319
NM_005373.3(MPL):c.1468+2T>C	rs1057517761
NM_005373.3(MPL):c.1469-1G>T	rs771729218
NM_005373.3(MPL):c.1469-2A>T	rs2153919390
NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)	rs2545673738
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)
NM_005373.3(MPL):c.1545_1546dup (p.Gln516fs)	rs2545686090
NM_005373.3(MPL):c.155G>A (p.Trp52Ter)	rs2545673744
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)	rs775704066
NM_005373.3(MPL):c.1629del (p.Arg544fs)
NM_005373.3(MPL):c.1653+1G>C
NM_005373.3(MPL):c.1653+1del	rs755257605
NM_005373.3(MPL):c.1654-1G>A
NM_005373.3(MPL):c.1781T>G (p.Leu594Trp)	rs1448812001
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	rs1373623383
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	rs121913612
NM_005373.3(MPL):c.213-1G>A	rs867404262
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)	rs1406715863
NM_005373.3(MPL):c.244C>T (p.Gln82Ter)	rs1647009785
NM_005373.3(MPL):c.256del (p.His86fs)
NM_005373.3(MPL):c.269G>A (p.Arg90Gln)	rs766638870
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)	rs759361904
NM_005373.3(MPL):c.280C>T (p.Gln94Ter)	rs1647010155
NM_005373.3(MPL):c.292C>T (p.Gln98Ter)	rs752682807
NM_005373.3(MPL):c.305G>A (p.Arg102His)	rs28928907
NM_005373.3(MPL):c.308del (p.Leu103fs)	rs1361003749
NM_005373.3(MPL):c.351_352insTGTCTCTTATA (p.Gln118fs)	rs2545674741
NM_005373.3(MPL):c.365_366delinsT (p.Gln122fs)	rs2545674772
NM_005373.3(MPL):c.391G>C (p.Gly131Arg)
NM_005373.3(MPL):c.398del (p.Pro133fs)	rs2545675638
NM_005373.3(MPL):c.407C>A (p.Pro136His)	rs764904424
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)	rs764904424
NM_005373.3(MPL):c.408_409del (p.Ser137fs)	rs2545675665
NM_005373.3(MPL):c.408dup (p.Ser137fs)
NM_005373.3(MPL):c.413del (p.Ile138fs)	rs1343123940
NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)	rs2545673204
NM_005373.3(MPL):c.461G>A (p.Trp154Ter)	rs1647014537
NM_005373.3(MPL):c.478G>T (p.Glu160Ter)	rs768536266
NM_005373.3(MPL):c.56del (p.Asn19fs)	rs2153916116
NM_005373.3(MPL):c.579C>A (p.Cys193Ter)	rs747962998
NM_005373.3(MPL):c.680del (p.Pro227fs)	rs2545676119
NM_005373.3(MPL):c.690+1G>A
NM_005373.3(MPL):c.690+2T>A	rs2153916885
NM_005373.3(MPL):c.690+2T>C	rs2153916885
NM_005373.3(MPL):c.695C>A (p.Ser232Ter)	rs1647019292
NM_005373.3(MPL):c.731C>A (p.Ser244Ter)	rs2153917033
NM_005373.3(MPL):c.733G>T (p.Gly245Ter)
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter)	rs1647019645
NM_005373.3(MPL):c.758G>A (p.Trp253Ter)	rs1647019692
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)	rs2545676752
NM_005373.3(MPL):c.763C>T (p.Gln255Ter)	rs771519257
NM_005373.3(MPL):c.775G>T (p.Glu259Ter)
NM_005373.3(MPL):c.79+1G>A	rs1647004958
NM_005373.3(MPL):c.79+1G>T	rs1647004958
NM_005373.3(MPL):c.807G>A (p.Trp269Ter)	rs1647020318
NM_005373.3(MPL):c.815G>A (p.Trp272Ter)	rs760059307
NM_005373.3(MPL):c.821del (p.Leu274fs)
NM_005373.3(MPL):c.853+1G>A
NM_005373.3(MPL):c.854-1G>A	rs2545677389
NM_005373.3(MPL):c.862_864delinsT (p.Gly288fs)	rs2545677398
NM_005373.3(MPL):c.972del (p.Arg325fs)	rs770457041
NM_005373.3(MPL):c.973A>T (p.Arg325Ter)	rs1647022933
NM_005373.3(MPL):c.980+2T>A	rs1647023010
NM_005373.3(MPL):c.981-1G>T
NM_005373.3(MPL):c.98C>A (p.Ser33Ter)	rs1228227826
NM_005373.3(MPL):c.992G>A (p.Trp331Ter)	rs2545682324
NM_005373.3(MPL):c.993_996delinsA (p.Trp331_Glu332delinsTer)

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