List of variants in gene MPL reported as uncertain significance for bone marrow disorder

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: 96

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys)	rs139770726	0.00059
NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	rs149810307	0.00039
NM_005373.3(MPL):c.1460C>T (p.Thr487Ile)	rs770428240	0.00018
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	rs142737453	0.00017
NM_005373.3(MPL):c.619G>A (p.Asp207Asn)	rs201385967	0.00015
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)	rs3820551	0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu)	rs145313814	0.00009
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr)	rs781129632	0.00008
NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	rs111460954	0.00006
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.1609C>T (p.Arg537Trp)	rs148784027	0.00004
NM_005373.3(MPL):c.548C>T (p.Thr183Met)	rs137952228	0.00004
NM_005373.3(MPL):c.212G>A (p.Arg71Gln)	rs368753117	0.00003
NM_005373.3(MPL):c.22A>G (p.Met8Val)	rs572208458	0.00003
NM_005373.3(MPL):c.712G>T (p.Gly238Cys)	rs144210383	0.00003
NM_005373.3(MPL):c.932C>T (p.Ser311Phe)	rs776753502	0.00003
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile)	rs971458513	0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)	rs770402221	0.00002
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)	rs587778513	0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr)	rs770770219	0.00002
NM_005373.3(MPL):c.292C>G (p.Gln98Glu)	rs752682807	0.00002
NM_005373.3(MPL):c.775G>A (p.Glu259Lys)	rs528834914	0.00002
NM_005373.3(MPL):c.1169G>A (p.Arg390His)	rs1298113648	0.00001
NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)	rs779132175	0.00001
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp)	rs938821234	0.00001
NM_005373.3(MPL):c.1331C>A (p.Ala444Asp)	rs886046351	0.00001
NM_005373.3(MPL):c.1337G>A (p.Gly446Glu)	rs561724539	0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro)	rs1207248925	0.00001
NM_005373.3(MPL):c.1442C>G (p.Thr481Ser)	rs1018549208	0.00001
NM_005373.3(MPL):c.1463A>G (p.Glu488Gly)	rs1328988667	0.00001
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)	rs121913615	0.00001
NM_005373.3(MPL):c.464A>T (p.Glu155Val)	rs780341646	0.00001
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr)	rs1313333589	0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu)	rs1361284210	0.00001
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln)
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln)
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg)
NM_005373.3(MPL):c.1057C>T (p.His353Tyr)
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile)
NM_005373.3(MPL):c.10T>C (p.Trp4Arg)
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr)
NM_005373.3(MPL):c.1168C>T (p.Arg390Cys)
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr)
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln)
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg)
NM_005373.3(MPL):c.136G>A (p.Glu46Lys)
NM_005373.3(MPL):c.136G>C (p.Glu46Gln)
NM_005373.3(MPL):c.1468+7C>T
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys)	rs121913613
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu)
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys)	rs1647078220
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser)
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala)
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser)
NM_005373.3(MPL):c.1567A>G (p.Arg523Gly)
NM_005373.3(MPL):c.1612G>C (p.Val538Leu)
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp)
NM_005373.3(MPL):c.1653G>A (p.Pro551=)
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala)
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp)
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu)
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe)
NM_005373.3(MPL):c.1739T>C (p.Leu580Ser)
NM_005373.3(MPL):c.1744C>G (p.Leu582Val)	rs2153920065
NM_005373.3(MPL):c.1766T>C (p.Met589Thr)
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs)
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter)
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)
NM_005373.3(MPL):c.224G>A (p.Arg75His)
NM_005373.3(MPL):c.338A>T (p.Asn113Ile)
NM_005373.3(MPL):c.358C>T (p.Arg120Trp)
NM_005373.3(MPL):c.368G>A (p.Arg123Gln)
NM_005373.3(MPL):c.404C>G (p.Pro135Arg)
NM_005373.3(MPL):c.417C>T (p.Ile139=)
NM_005373.3(MPL):c.445G>A (p.Glu149Lys)	rs267598615
NM_005373.3(MPL):c.502G>A (p.Glu168Lys)
NM_005373.3(MPL):c.517C>G (p.Pro173Ala)
NM_005373.3(MPL):c.530A>C (p.Lys177Thr)
NM_005373.3(MPL):c.535T>C (p.Ser179Pro)
NM_005373.3(MPL):c.556C>A (p.Gln186Lys)
NM_005373.3(MPL):c.556C>G (p.Gln186Glu)
NM_005373.3(MPL):c.593A>G (p.Gln198Arg)
NM_005373.3(MPL):c.613G>A (p.Ala205Thr)
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr)
NM_005373.3(MPL):c.709G>A (p.Glu237Lys)
NM_005373.3(MPL):c.844G>A (p.Gly282Arg)	rs878854770
NM_005373.3(MPL):c.89T>C (p.Leu30Ser)
NM_005373.3(MPL):c.923A>T (p.His308Leu)
NM_005373.3(MPL):c.94G>A (p.Ala32Thr)
NM_005373.3(MPL):c.956G>A (p.Arg319Lys)
NM_005373.3(MPL):c.961C>T (p.Arg321Trp)
NM_005373.3(MPL):c.981-8G>A
NM_005373.3(MPL):c.988A>T (p.Ile330Phe)	rs1647056598

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