ClinVar Miner

List of variants reported as likely benign for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 343
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.677C>A (p.Ser226Tyr) rs141063159 0.00183
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 0.00055
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) rs561818288 0.00049
NM_005373.3(MPL):c.1197G>A (p.Arg399=) rs148945299 0.00042
NM_005373.3(MPL):c.1536G>A (p.Leu512=) rs137990502 0.00031
NM_005373.3(MPL):c.549G>A (p.Thr183=) rs147130173 0.00024
NM_005373.3(MPL):c.963G>T (p.Arg321=) rs138636505 0.00024
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) rs150004498 0.00023
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) rs61754776 0.00021
NM_005373.3(MPL):c.690+11C>T rs144769485 0.00012
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005373.3(MPL):c.1803C>T (p.Thr601=) rs140794721 0.00009
NM_005373.3(MPL):c.1650C>T (p.Ser550=) rs377715574 0.00008
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.1542G>A (p.Arg514=) rs367960803 0.00006
NM_005373.3(MPL):c.1573A>C (p.Arg525=) rs143100182 0.00006
NM_005373.3(MPL):c.1002C>T (p.Cys334=) rs141526418 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.1629T>C (p.Leu543=) rs150816330 0.00004
NM_005373.3(MPL):c.1665A>G (p.Thr555=) rs981464721 0.00003
NM_005373.3(MPL):c.978C>T (p.Asp326=) rs202119310 0.00003
NM_005373.3(MPL):c.1014G>A (p.Glu338=) rs767497390 0.00002
NM_005373.3(MPL):c.1134C>T (p.Tyr378=) rs749571171 0.00002
NM_005373.3(MPL):c.120T>C (p.Cys40=) rs747864027 0.00002
NM_005373.3(MPL):c.1632G>A (p.Arg544=) rs780927987 0.00002
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517 0.00001
NM_005373.3(MPL):c.1119T>C (p.Gly373=) rs748581599 0.00001
NM_005373.3(MPL):c.1140C>G (p.Gly380=) rs745697567 0.00001
NM_005373.3(MPL):c.1165+10T>C rs1392500587 0.00001
NM_005373.3(MPL):c.1165+8C>A rs760520500 0.00001
NM_005373.3(MPL):c.1166-4G>A rs753315546 0.00001
NM_005373.3(MPL):c.1242G>A (p.Ser414=) rs544064034 0.00001
NM_005373.3(MPL):c.1353G>A (p.Leu451=) rs1218597246 0.00001
NM_005373.3(MPL):c.1443T>C (p.Thr481=) rs769867816 0.00001
NM_005373.3(MPL):c.1455C>A (p.Thr485=) rs1420201893 0.00001
NM_005373.3(MPL):c.1468+8A>G rs1221843249 0.00001
NM_005373.3(MPL):c.1469-10T>C rs756761741 0.00001
NM_005373.3(MPL):c.1554T>G (p.Pro518=) rs756010427 0.00001
NM_005373.3(MPL):c.1566-8T>C rs1037232039 0.00001
NM_005373.3(MPL):c.1605G>T (p.Leu535=) rs371286903 0.00001
NM_005373.3(MPL):c.1704T>C (p.Leu568=) rs1428589548 0.00001
NM_005373.3(MPL):c.1731G>A (p.Arg577=) rs1297298234 0.00001
NM_005373.3(MPL):c.174G>A (p.Ala58=) rs141077413 0.00001
NM_005373.3(MPL):c.1773C>T (p.Tyr591=) rs752177268 0.00001
NM_005373.3(MPL):c.231C>T (p.Cys77=) rs747378368 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.391+7G>A rs201738900 0.00001
NM_005373.3(MPL):c.468G>A (p.Glu156=) rs747175671 0.00001
NM_005373.3(MPL):c.513T>C (p.Tyr171=) rs971985422 0.00001
NM_005373.3(MPL):c.519C>T (p.Pro173=) rs1384608430 0.00001
NM_005373.3(MPL):c.534C>T (p.Asn178=) rs1473089822 0.00001
NM_005373.3(MPL):c.618G>C (p.Leu206=) rs1334230054 0.00001
NM_005373.3(MPL):c.750C>T (p.Asn250=) rs753703546 0.00001
NM_005373.3(MPL):c.795C>T (p.Leu265=) rs774771300 0.00001
NM_005373.3(MPL):c.840G>A (p.Leu280=) rs1313119276 0.00001
NM_005373.3(MPL):c.853+10C>A rs1341584081 0.00001
NM_005373.3(MPL):c.854-10T>C rs771241328 0.00001
NM_005373.3(MPL):c.936A>G (p.Gln312=) rs1647022428 0.00001
NM_005373.3(MPL):c.972C>T (p.Pro324=) rs1010774862 0.00001
NM_005373.3(MPL):c.984C>T (p.Tyr328=) rs1174825503 0.00001
NM_005373.3(MPL):c.1011A>G (p.Glu337=) rs1318577614
NM_005373.3(MPL):c.1017A>G (p.Lys339=)
NM_005373.3(MPL):c.1023T>C (p.Asn341=) rs554597610
NM_005373.3(MPL):c.1026A>C (p.Pro342=)
NM_005373.3(MPL):c.1038C>T (p.Thr346=)
NM_005373.3(MPL):c.105A>G (p.Ser35=) rs2153916223
NM_005373.3(MPL):c.1116G>A (p.Pro372=) rs781733134
NM_005373.3(MPL):c.1119T>G (p.Gly373=) rs748581599
NM_005373.3(MPL):c.1143C>T (p.Ser381=) rs2153918638
NM_005373.3(MPL):c.1158C>T (p.His386=)
NM_005373.3(MPL):c.1165+12C>A
NM_005373.3(MPL):c.1165+18_1165+27dup
NM_005373.3(MPL):c.1165+18del
NM_005373.3(MPL):c.1166-13G>A
NM_005373.3(MPL):c.1166-14T>C
NM_005373.3(MPL):c.1166-5T>C
NM_005373.3(MPL):c.1166-6C>T rs1647059033
NM_005373.3(MPL):c.1166-9T>C
NM_005373.3(MPL):c.1167G>A (p.Val389=) rs2153918731
NM_005373.3(MPL):c.1176C>T (p.Pro392=)
NM_005373.3(MPL):c.1182A>C (p.Pro394=)
NM_005373.3(MPL):c.1185C>T (p.Asn395=)
NM_005373.3(MPL):c.1200G>A (p.Glu400=) rs2153918759
NM_005373.3(MPL):c.1215T>C (p.His405=) rs2153918763
NM_005373.3(MPL):c.1239A>G (p.Pro413=)
NM_005373.3(MPL):c.1242G>C (p.Ser414=) rs544064034
NM_005373.3(MPL):c.1245C>A (p.Ser415=) rs1002584503
NM_005373.3(MPL):c.1251A>C (p.Ala417=)
NM_005373.3(MPL):c.1254C>G (p.Ala418=) rs1344383290
NM_005373.3(MPL):c.1260G>A (p.Glu420=)
NM_005373.3(MPL):c.1272A>G (p.Gln424=) rs1647060081
NM_005373.3(MPL):c.1275C>G (p.Leu425=)
NM_005373.3(MPL):c.1299G>A (p.Gln433=)
NM_005373.3(MPL):c.1308+12C>T
NM_005373.3(MPL):c.1308+8C>A rs376365109
NM_005373.3(MPL):c.1308+8C>G rs376365109
NM_005373.3(MPL):c.1309-18G>A
NM_005373.3(MPL):c.1309-18G>T
NM_005373.3(MPL):c.1309-19C>T
NM_005373.3(MPL):c.1309-3dup
NM_005373.3(MPL):c.1309-6G>A rs2153919199
NM_005373.3(MPL):c.1314G>C (p.Leu438=)
NM_005373.3(MPL):c.1320G>C (p.Pro440=) rs2153919217
NM_005373.3(MPL):c.1326C>G (p.Leu442=)
NM_005373.3(MPL):c.1329G>T (p.Gly443=)
NM_005373.3(MPL):c.1338A>G (p.Gly446=) rs530475779
NM_005373.3(MPL):c.1341G>C (p.Gly447=)
NM_005373.3(MPL):c.1345C>T (p.Leu449=) rs2153919239
NM_005373.3(MPL):c.1351C>T (p.Leu451=)
NM_005373.3(MPL):c.1356C>T (p.Arg452=) rs1647073349
NM_005373.3(MPL):c.1359G>A (p.Pro453=) rs1262936822
NM_005373.3(MPL):c.1365T>C (p.Ser455=)
NM_005373.3(MPL):c.1371C>T (p.Tyr457=) rs2153919254
NM_005373.3(MPL):c.1381C>T (p.Leu461=) rs2153919261
NM_005373.3(MPL):c.1389C>T (p.Ala463=)
NM_005373.3(MPL):c.1395C>T (p.Leu465=)
NM_005373.3(MPL):c.1398C>T (p.Asn466=)
NM_005373.3(MPL):c.1401C>T (p.Gly467=) rs2153919286
NM_005373.3(MPL):c.1407C>T (p.Thr469=) rs2153919290
NM_005373.3(MPL):c.1419C>T (p.Pro473=)
NM_005373.3(MPL):c.1428G>T (p.Ser476=) rs2153919294
NM_005373.3(MPL):c.1434G>A (p.Ser478=)
NM_005373.3(MPL):c.1434G>C (p.Ser478=) rs916392437
NM_005373.3(MPL):c.1440A>G (p.Pro480=)
NM_005373.3(MPL):c.1452G>A (p.Glu484=)
NM_005373.3(MPL):c.1461C>A (p.Thr487=)
NM_005373.3(MPL):c.1461C>G (p.Thr487=)
NM_005373.3(MPL):c.1464G>A (p.Glu488=)
NM_005373.3(MPL):c.1468+10G>A rs2153919323
NM_005373.3(MPL):c.1468+10G>T
NM_005373.3(MPL):c.1468+11C>A
NM_005373.3(MPL):c.1468+14C>G
NM_005373.3(MPL):c.1468+14C>T
NM_005373.3(MPL):c.1468+6dup
NM_005373.3(MPL):c.1468+7C>A
NM_005373.3(MPL):c.1468+7C>G rs1360335718
NM_005373.3(MPL):c.1468+9A>G
NM_005373.3(MPL):c.1469-16C>T
NM_005373.3(MPL):c.1469-17C>A
NM_005373.3(MPL):c.1469-17C>T
NM_005373.3(MPL):c.1469-7C>G rs202232618
NM_005373.3(MPL):c.147T>C (p.Thr49=)
NM_005373.3(MPL):c.1480T>C (p.Leu494=)
NM_005373.3(MPL):c.1491T>C (p.Ala497=)
NM_005373.3(MPL):c.1506G>A (p.Leu502=)
NM_005373.3(MPL):c.150C>T (p.Cys50=)
NM_005373.3(MPL):c.1524G>A (p.Leu508=)
NM_005373.3(MPL):c.1527C>A (p.Gly509=) rs1570472144
NM_005373.3(MPL):c.1527C>T (p.Gly509=)
NM_005373.3(MPL):c.1563C>T (p.Tyr521=) rs1392072769
NM_005373.3(MPL):c.1565+11C>T
NM_005373.3(MPL):c.1565+12G>A
NM_005373.3(MPL):c.1565+12G>C
NM_005373.3(MPL):c.1565+18C>A
NM_005373.3(MPL):c.1565+19dup
NM_005373.3(MPL):c.1566-14T>C
NM_005373.3(MPL):c.1566-15T>C
NM_005373.3(MPL):c.1566-16C>T
NM_005373.3(MPL):c.1566-19T>C
NM_005373.3(MPL):c.1566-6C>T
NM_005373.3(MPL):c.1566-7C>T rs375344403
NM_005373.3(MPL):c.1572G>C (p.Leu524=) rs2153919916
NM_005373.3(MPL):c.1584G>A (p.Leu528=) rs1380383088
NM_005373.3(MPL):c.159T>C (p.Asp53=)
NM_005373.3(MPL):c.1603C>T (p.Leu535=)
NM_005373.3(MPL):c.1626C>T (p.Tyr542=)
NM_005373.3(MPL):c.162G>A (p.Glu54=)
NM_005373.3(MPL):c.1635C>T (p.Asp545=) rs374221815
NM_005373.3(MPL):c.1640C>T (p.Ala547Val)
NM_005373.3(MPL):c.1647G>A (p.Leu549=)
NM_005373.3(MPL):c.1653+10C>T rs2153919956
NM_005373.3(MPL):c.1653+13C>T
NM_005373.3(MPL):c.1653+20_1653+21del
NM_005373.3(MPL):c.1653+7G>A rs2153919952
NM_005373.3(MPL):c.1654-11A>G
NM_005373.3(MPL):c.1654-20C>T
NM_005373.3(MPL):c.1654-5C>A rs1020318873
NM_005373.3(MPL):c.1654-5C>T rs1020318873
NM_005373.3(MPL):c.1654-9C>T rs2153920018
NM_005373.3(MPL):c.1662C>T (p.Ala554=)
NM_005373.3(MPL):c.1665A>C (p.Thr555=)
NM_005373.3(MPL):c.1677C>T (p.Thr559=)
NM_005373.3(MPL):c.1680T>C (p.Cys560=)
NM_005373.3(MPL):c.1683A>G (p.Glu561=) rs202022473
NM_005373.3(MPL):c.1686A>G (p.Glu562=)
NM_005373.3(MPL):c.1701C>T (p.Leu567=)
NM_005373.3(MPL):c.1719G>A (p.Lys573=) rs774393112
NM_005373.3(MPL):c.1728G>A (p.Glu576=)
NM_005373.3(MPL):c.1743C>G (p.Pro581=)
NM_005373.3(MPL):c.1761C>T (p.Ala587=) rs1647101111
NM_005373.3(MPL):c.1782G>A (p.Leu594=)
NM_005373.3(MPL):c.1795C>T (p.Leu599=)
NM_005373.3(MPL):c.1809C>G (p.Pro603=) rs374553815
NM_005373.3(MPL):c.1812G>C (p.Leu604=)
NM_005373.3(MPL):c.1815T>C (p.Ser605=)
NM_005373.3(MPL):c.1818G>A (p.Val606=) rs2153920103
NM_005373.3(MPL):c.1827C>A (p.Pro609=)
NM_005373.3(MPL):c.1841G>C (p.Gly614Ala)
NM_005373.3(MPL):c.1842G>A (p.Gly614=)
NM_005373.3(MPL):c.1857C>T (p.Thr619=) rs2153920125
NM_005373.3(MPL):c.1860C>T (p.His620=)
NM_005373.3(MPL):c.1893T>C (p.Tyr631=)
NM_005373.3(MPL):c.1905T>C (p.Pro635=)
NM_005373.3(MPL):c.192G>A (p.Gln64=)
NM_005373.3(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.3(MPL):c.198G>A (p.Leu66=) rs1647007308
NM_005373.3(MPL):c.207C>T (p.Tyr69=) rs2153916283
NM_005373.3(MPL):c.212+10G>A
NM_005373.3(MPL):c.212+17G>A
NM_005373.3(MPL):c.212+17G>T
NM_005373.3(MPL):c.212+8C>T
NM_005373.3(MPL):c.213-12C>T
NM_005373.3(MPL):c.213-20G>C
NM_005373.3(MPL):c.213-6C>T rs1647009547
NM_005373.3(MPL):c.213-7C>T rs2153916416
NM_005373.3(MPL):c.219G>A (p.Lys73=)
NM_005373.3(MPL):c.234C>G (p.Pro78=)
NM_005373.3(MPL):c.234C>T (p.Pro78=)
NM_005373.3(MPL):c.255C>T (p.Pro85=) rs1557463066
NM_005373.3(MPL):c.264A>T (p.Gly88=)
NM_005373.3(MPL):c.279C>T (p.Cys93=) rs2153916471
NM_005373.3(MPL):c.27C>T (p.Val9=) rs1343948119
NM_005373.3(MPL):c.306T>A (p.Arg102=) rs140354935
NM_005373.3(MPL):c.306T>C (p.Arg102=)
NM_005373.3(MPL):c.309C>A (p.Leu103=)
NM_005373.3(MPL):c.315T>C (p.Phe105=) rs2153916507
NM_005373.3(MPL):c.333G>A (p.Val111=) rs1570464811
NM_005373.3(MPL):c.339T>C (p.Asn113=)
NM_005373.3(MPL):c.366G>A (p.Gln122=)
NM_005373.3(MPL):c.367C>A (p.Arg123=)
NM_005373.3(MPL):c.391+13C>T
NM_005373.3(MPL):c.391+18G>A
NM_005373.3(MPL):c.391+19T>C
NM_005373.3(MPL):c.391+19T>G
NM_005373.3(MPL):c.392-13G>C
NM_005373.3(MPL):c.392-15_392-14del
NM_005373.3(MPL):c.392-16C>T
NM_005373.3(MPL):c.392-20G>A
NM_005373.3(MPL):c.392-8G>C
NM_005373.3(MPL):c.392-8G>T
NM_005373.3(MPL):c.392-9T>C rs2153916670
NM_005373.3(MPL):c.399G>A (p.Pro133=) rs768283382
NM_005373.3(MPL):c.402T>C (p.Ala134=)
NM_005373.3(MPL):c.408C>A (p.Pro136=) rs146579984
NM_005373.3(MPL):c.408C>G (p.Pro136=) rs146579984
NM_005373.3(MPL):c.420G>A (p.Lys140=) rs2153916692
NM_005373.3(MPL):c.423C>T (p.Ala141=) rs2153916694
NM_005373.3(MPL):c.42C>T (p.Leu14=) rs2153916109
NM_005373.3(MPL):c.432G>A (p.Gly144=)
NM_005373.3(MPL):c.432G>C (p.Gly144=) rs2153916702
NM_005373.3(MPL):c.444G>T (p.Gly148=)
NM_005373.3(MPL):c.447A>G (p.Glu149=) rs2153916718
NM_005373.3(MPL):c.459C>T (p.Ser153=)
NM_005373.3(MPL):c.465G>A (p.Glu155=)
NM_005373.3(MPL):c.492C>T (p.Phe164=) rs1343497787
NM_005373.3(MPL):c.493C>T (p.Leu165=)
NM_005373.3(MPL):c.501C>T (p.Tyr167=) rs1647014738
NM_005373.3(MPL):c.51T>G (p.Pro17=) rs2153916114
NM_005373.3(MPL):c.525T>C (p.Asp175=)
NM_005373.3(MPL):c.531G>A (p.Lys177=) rs2153916772
NM_005373.3(MPL):c.540T>C (p.Thr180=) rs2153916776
NM_005373.3(MPL):c.549G>T (p.Thr183=)
NM_005373.3(MPL):c.561G>A (p.Leu187=) rs1570465392
NM_005373.3(MPL):c.567C>T (p.Ala189=)
NM_005373.3(MPL):c.576C>T (p.Thr192=) rs2153916800
NM_005373.3(MPL):c.579C>T (p.Cys193=) rs747962998
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)
NM_005373.3(MPL):c.585T>C (p.Pro195=)
NM_005373.3(MPL):c.639G>A (p.Gln213=)
NM_005373.3(MPL):c.663A>G (p.Gly221=) rs1647016206
NM_005373.3(MPL):c.669G>A (p.Lys223=)
NM_005373.3(MPL):c.684T>C (p.Ser228=) rs766536759
NM_005373.3(MPL):c.690+10C>G rs1160632727
NM_005373.3(MPL):c.690+15T>C
NM_005373.3(MPL):c.690+19G>A
NM_005373.3(MPL):c.690+20C>T
NM_005373.3(MPL):c.690+7T>C
NM_005373.3(MPL):c.690+8_690+12dup
NM_005373.3(MPL):c.691-12T>A
NM_005373.3(MPL):c.691-16G>C
NM_005373.3(MPL):c.691-17G>A
NM_005373.3(MPL):c.691-4C>T
NM_005373.3(MPL):c.691-7T>C
NM_005373.3(MPL):c.696A>G (p.Ser232=)
NM_005373.3(MPL):c.696A>T (p.Ser232=) rs767614158
NM_005373.3(MPL):c.69C>A (p.Val23=) rs2153916126
NM_005373.3(MPL):c.6C>T (p.Pro2=) rs2153916091
NM_005373.3(MPL):c.723C>T (p.Cys241=) rs2153917030
NM_005373.3(MPL):c.768G>A (p.Leu256=) rs1570465882
NM_005373.3(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.3(MPL):c.774C>T (p.Ser258=) rs746721066
NM_005373.3(MPL):c.783T>C (p.Asp261=) rs749648068
NM_005373.3(MPL):c.79+10A>C
NM_005373.3(MPL):c.79+15G>A
NM_005373.3(MPL):c.79+15G>C
NM_005373.3(MPL):c.79+16G>T
NM_005373.3(MPL):c.79+17G>A
NM_005373.3(MPL):c.79+17G>T
NM_005373.3(MPL):c.79+18T>C
NM_005373.3(MPL):c.79+19G>A
NM_005373.3(MPL):c.79+20G>A
NM_005373.3(MPL):c.79+7T>C rs2153916135
NM_005373.3(MPL):c.79+8G>C
NM_005373.3(MPL):c.79+9C>G
NM_005373.3(MPL):c.79+9C>T
NM_005373.3(MPL):c.80-11C>A
NM_005373.3(MPL):c.80-15C>T
NM_005373.3(MPL):c.80-17C>T
NM_005373.3(MPL):c.80-19C>T
NM_005373.3(MPL):c.80-7T>C rs2153916207
NM_005373.3(MPL):c.80-9G>T rs2153916206
NM_005373.3(MPL):c.837C>T (p.Asp279=)
NM_005373.3(MPL):c.853+10C>G
NM_005373.3(MPL):c.853+10C>T
NM_005373.3(MPL):c.853+10del
NM_005373.3(MPL):c.853+15G>A
NM_005373.3(MPL):c.853+18T>C
NM_005373.3(MPL):c.853+18T>G
NM_005373.3(MPL):c.853+18del
NM_005373.3(MPL):c.853+7C>A rs2153917115
NM_005373.3(MPL):c.854-14T>C
NM_005373.3(MPL):c.854-15C>T
NM_005373.3(MPL):c.870A>G (p.Gln290=)
NM_005373.3(MPL):c.876T>C (p.Phe292=)
NM_005373.3(MPL):c.879C>G (p.Thr293=)
NM_005373.3(MPL):c.921C>T (p.Asp307=) rs764243911
NM_005373.3(MPL):c.933C>T (p.Ser311=) rs2153917221
NM_005373.3(MPL):c.939C>G (p.Gly313=)
NM_005373.3(MPL):c.957G>A (p.Arg319=)
NM_005373.3(MPL):c.963G>C (p.Arg321=)
NM_005373.3(MPL):c.96A>C (p.Ala32=)
NM_005373.3(MPL):c.96A>G (p.Ala32=) rs1647006420
NM_005373.3(MPL):c.980+14T>C
NM_005373.3(MPL):c.980+16C>T
NM_005373.3(MPL):c.981-11C>T
NM_005373.3(MPL):c.987C>A (p.Pro329=) rs144491350
NM_005373.3(MPL):c.987C>G (p.Pro329=)
NM_005373.3(MPL):c.999C>T (p.Asn333=) rs1053884539
NM_005373.3(MPL):c.9C>G (p.Ser3=)

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