ClinVar Miner

List of variants in gene MPL reported as uncertain significance for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia

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Gene type:
ClinVar version:
Total variants: 141
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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.1168C>T (p.Arg390Cys) rs373621350 0.00013
NM_005373.3(MPL):c.1258G>C (p.Glu420Gln) rs373326579 0.00011
NM_005373.3(MPL):c.224G>A (p.Arg75His) rs148276667 0.00011
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00010
NM_005373.3(MPL):c.1610G>A (p.Arg537Gln) rs3820551 0.00009
NM_005373.3(MPL):c.1432T>A (p.Ser478Thr) rs781129632 0.00008
NM_005373.3(MPL):c.1653G>A (p.Pro551=) rs200328093 0.00006
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.1739T>C (p.Leu580Ser) rs147851301 0.00005
NM_005373.3(MPL):c.22A>G (p.Met8Val) rs572208458 0.00005
NM_005373.3(MPL):c.502G>A (p.Glu168Lys) rs6088 0.00005
NM_005373.3(MPL):c.593A>G (p.Gln198Arg) rs201050642 0.00004
NM_005373.3(MPL):c.1012G>C (p.Glu338Gln) rs759271926 0.00003
NM_005373.3(MPL):c.1183A>G (p.Asn395Asp) rs938821234 0.00003
NM_005373.3(MPL):c.1612G>C (p.Val538Leu) rs374829965 0.00003
NM_005373.3(MPL):c.1652C>T (p.Pro551Leu) rs971379181 0.00003
NM_005373.3(MPL):c.1745T>C (p.Leu582Pro) rs587778513 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005373.3(MPL):c.535T>C (p.Ser179Pro) rs746331868 0.00003
NM_005373.3(MPL):c.548C>T (p.Thr183Met) rs137952228 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.961C>T (p.Arg321Trp) rs566429212 0.00003
NM_005373.3(MPL):c.1058A>G (p.His353Arg) rs756953598 0.00002
NM_005373.3(MPL):c.1302C>A (p.Asp434Glu) rs757381016 0.00002
NM_005373.3(MPL):c.145A>G (p.Thr49Ala) rs764333753 0.00002
NM_005373.3(MPL):c.1618G>A (p.Gly540Ser) rs750421230 0.00002
NM_005373.3(MPL):c.1664C>T (p.Thr555Ile) rs971458513 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.94G>A (p.Ala32Thr) rs746914831 0.00002
NM_005373.3(MPL):c.1043A>G (p.Gln348Arg) rs146071368 0.00001
NM_005373.3(MPL):c.10T>C (p.Trp4Arg) rs752112087 0.00001
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.1327G>C (p.Gly443Arg) rs895171793 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.1339G>C (p.Gly447Arg) rs550268500 0.00001
NM_005373.3(MPL):c.1367G>C (p.Arg456Pro) rs1207248925 0.00001
NM_005373.3(MPL):c.136G>A (p.Glu46Lys) rs1398260614 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.1567A>G (p.Arg523Gly) rs1190279641 0.00001
NM_005373.3(MPL):c.1669T>G (p.Ser557Ala) rs142161843 0.00001
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs) rs770402221 0.00001
NM_005373.3(MPL):c.1766T>C (p.Met589Thr) rs758886118 0.00001
NM_005373.3(MPL):c.338A>T (p.Asn113Ile) rs1490299849 0.00001
NM_005373.3(MPL):c.368G>A (p.Arg123Gln) rs770877156 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.613G>A (p.Ala205Thr) rs1173817332 0.00001
NM_005373.3(MPL):c.632G>A (p.Cys211Tyr) rs771639707 0.00001
NM_005373.3(MPL):c.641C>T (p.Pro214Leu) rs775165199 0.00001
NM_005373.3(MPL):c.709G>A (p.Glu237Lys) rs765133601 0.00001
NM_005373.3(MPL):c.809G>A (p.Gly270Glu) rs1361284210 0.00001
NM_005373.3(MPL):c.923A>T (p.His308Leu) rs1415067325 0.00001
NC_000001.10:g.(?_43812096)_(43818443_?)dup
NM_005373.3(MPL):c.1021A>T (p.Asn341Tyr)
NM_005373.3(MPL):c.1025C>A (p.Pro342Gln) rs2153918503
NM_005373.3(MPL):c.1035G>T (p.Gln345His)
NM_005373.3(MPL):c.1057C>T (p.His353Tyr) rs906892809
NM_005373.3(MPL):c.1079G>T (p.Ser360Ile) rs993382058
NM_005373.3(MPL):c.1097T>C (p.Val366Ala)
NM_005373.3(MPL):c.110C>T (p.Pro37Leu)
NM_005373.3(MPL):c.1162_1163delinsTA (p.Ala388Tyr) rs2545682817
NM_005373.3(MPL):c.1219G>A (p.Glu407Lys)
NM_005373.3(MPL):c.1249G>A (p.Ala417Thr) rs1371902994
NM_005373.3(MPL):c.128G>A (p.Arg43Gln)
NM_005373.3(MPL):c.1319C>G (p.Pro440Arg) rs2545684865
NM_005373.3(MPL):c.131C>T (p.Thr44Ile) rs772445486
NM_005373.3(MPL):c.1334G>A (p.Arg445Gln)
NM_005373.3(MPL):c.136G>C (p.Glu46Gln) rs1398260614
NM_005373.3(MPL):c.1379A>T (p.Gln460Leu)
NM_005373.3(MPL):c.1450G>A (p.Glu484Lys)
NM_005373.3(MPL):c.1464G>C (p.Glu488Asp)
NM_005373.3(MPL):c.1468+7C>T rs1360335718
NM_005373.3(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.3(MPL):c.1528CTG[5] (p.Leu513_Arg514insLeu) rs1181866387
NM_005373.3(MPL):c.1541G>A (p.Arg514Lys) rs1647078220
NM_005373.3(MPL):c.1542G>T (p.Arg514Ser) rs367960803
NM_005373.3(MPL):c.1543_1544delinsGC (p.Trp515Ala) rs121913616
NM_005373.3(MPL):c.1544G>C (p.Trp515Ser) rs121913615
NM_005373.3(MPL):c.1602C>G (p.Asp534Glu)
NM_005373.3(MPL):c.163G>A (p.Glu55Lys)
NM_005373.3(MPL):c.1643C>A (p.Ala548Asp) rs779404347
NM_005373.3(MPL):c.1653+6T>C
NM_005373.3(MPL):c.1688T>C (p.Val563Ala)
NM_005373.3(MPL):c.1707A>T (p.Glu569Asp) rs2545689123
NM_005373.3(MPL):c.1717A>G (p.Lys573Glu) rs1366838424
NM_005373.3(MPL):c.1721C>T (p.Ser574Phe) rs2545689146
NM_005373.3(MPL):c.1744C>G (p.Leu582Val) rs2153920065
NM_005373.3(MPL):c.178A>G (p.Ser60Gly)
NM_005373.3(MPL):c.1810_1811del (p.Leu604fs) rs2545689304
NM_005373.3(MPL):c.1816G>A (p.Val606Met)
NM_005373.3(MPL):c.1849T>G (p.Cys617Gly)
NM_005373.3(MPL):c.1856C>A (p.Thr619Asn)
NM_005373.3(MPL):c.187T>C (p.Tyr63His)
NM_005373.3(MPL):c.1897C>T (p.Gln633Ter) rs2153920158
NM_005373.3(MPL):c.1908A>G (p.Ter636Trp)
NM_005373.3(MPL):c.19T>C (p.Phe7Leu)
NM_005373.3(MPL):c.206A>G (p.Tyr69Cys) rs2545673818
NM_005373.3(MPL):c.211C>T (p.Arg71Trp)
NM_005373.3(MPL):c.223C>T (p.Arg75Cys)
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) rs766638870
NM_005373.3(MPL):c.274G>A (p.Val92Met)
NM_005373.3(MPL):c.309CTT[1] (p.Phe105del)
NM_005373.3(MPL):c.31T>G (p.Ser11Ala)
NM_005373.3(MPL):c.351C>G (p.Asn117Lys)
NM_005373.3(MPL):c.354G>C (p.Gln118His)
NM_005373.3(MPL):c.358C>T (p.Arg120Trp) rs1168949001
NM_005373.3(MPL):c.404C>G (p.Pro135Arg) rs761623764
NM_005373.3(MPL):c.417C>T (p.Ile139=) rs2545675677
NM_005373.3(MPL):c.445G>A (p.Glu149Lys) rs267598615
NM_005373.3(MPL):c.468G>C (p.Glu156Asp)
NM_005373.3(MPL):c.517C>G (p.Pro173Ala) rs202137992
NM_005373.3(MPL):c.530A>C (p.Lys177Thr) rs1189914546
NM_005373.3(MPL):c.556C>A (p.Gln186Lys) rs121913610
NM_005373.3(MPL):c.556C>G (p.Gln186Glu) rs121913610
NM_005373.3(MPL):c.562A>T (p.Ile188Phe)
NM_005373.3(MPL):c.614C>T (p.Ala205Val) rs1402521127
NM_005373.3(MPL):c.650C>A (p.Pro217His)
NM_005373.3(MPL):c.674C>T (p.Thr225Ile)
NM_005373.3(MPL):c.683G>A (p.Ser228Asn)
NM_005373.3(MPL):c.684T>A (p.Ser228Arg) rs766536759
NM_005373.3(MPL):c.770G>A (p.Arg257His)
NM_005373.3(MPL):c.836A>G (p.Asp279Gly)
NM_005373.3(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.3(MPL):c.853+3G>A
NM_005373.3(MPL):c.89T>C (p.Leu30Ser) rs2545673631
NM_005373.3(MPL):c.956G>A (p.Arg319Lys) rs2545677573
NM_005373.3(MPL):c.981-8G>A rs2153918451
NM_005373.3(MPL):c.988A>T (p.Ile330Phe) rs1647056598

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