ClinVar Miner

List of variants studied for blood platelet disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP gnomAD frequency
NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) rs3184504 0.66794
NM_000173.7(GP1BA):c.1322_1344del (p.Ser441fs) rs770089708 0.39537
NM_139027.6(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612 0.31482
NM_139027.6(ADAMTS13):c.4053C>A (p.Thr1351=) rs1055432 0.26164
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_030773.4(TUBB1):c.920G>A (p.Arg307His) rs6070697 0.16486
NM_002473.6(MYH9):c.1108+19C>T rs78323081 0.02129
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_139027.6(ADAMTS13):c.2195C>T (p.Ala732Val) rs41314453 0.01000
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_014915.3(ANKRD26):c.3655G>A (p.Val1219Ile) rs146819984 0.00781
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_000173.7(GP1BA):c.106A>G (p.Arg36Gly) rs111292798 0.00526
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_139027.6(ADAMTS13):c.500C>T (p.Thr167Met) rs141932927 0.00458
NM_005476.7(GNE):c.624T>G (p.Asp208Glu) rs35224402 0.00389
NM_002473.6(MYH9):c.2229+13G>T rs139146113 0.00377
NM_139027.6(ADAMTS13):c.1786+16G>A rs36220948 0.00349
NM_139027.6(ADAMTS13):c.1705+14C>T rs191816433 0.00342
NM_139027.6(ADAMTS13):c.1705+7G>A rs78739717 0.00233
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_139027.6(ADAMTS13):c.3400+45C>T rs141494468 0.00225
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_002473.6(MYH9):c.165C>T (p.Ile55=) rs141948797 0.00187
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_002473.6(MYH9):c.2913G>A (p.Ala971=) rs200763055 0.00116
NM_000377.3(WAS):c.1453+16C>T rs200543049 0.00115
NM_000407.5(GP1BB):c.119G>A (p.Gly40Glu) rs375285857 0.00115
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_002473.6(MYH9):c.1228-16C>T rs186815044 0.00106
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446 0.00106
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00089
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_002473.6(MYH9):c.5049C>A (p.Ile1683=) rs147419066 0.00086
NM_001382567.1(STIM1):c.387A>G (p.Val129=) rs116855870 0.00083
NM_005373.3(MPL):c.1120A>G (p.Thr374Ala) rs190983971 0.00082
NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) rs72650673 0.00080
NM_002473.6(MYH9):c.1843+14C>A rs372865551 0.00078
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002473.6(MYH9):c.4095+20C>T rs201994553 0.00056
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_002473.6(MYH9):c.3485+18G>C rs200835614 0.00046
NM_139027.6(ADAMTS13):c.1290C>T (p.Ala430=) rs138401488 0.00043
NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met) rs141811556 0.00041
NM_002473.6(MYH9):c.1167C>T (p.Ile389=) rs114048959 0.00039
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) rs34256013 0.00036
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) rs145175796 0.00035
NM_002049.4(GATA1):c.174G>A (p.Ala58=) rs139614533 0.00031
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_000377.3(WAS):c.873C>T (p.Tyr291=) rs149123892 0.00029
NM_002473.6(MYH9):c.3195C>A (p.Ala1065=) rs148781875 0.00029
NM_000377.3(WAS):c.1110A>C (p.Pro370=) rs782244198 0.00028
NM_000407.5(GP1BB):c.143C>T (p.Ser48Leu) rs536874549 0.00027
NM_002473.6(MYH9):c.4664A>G (p.Lys1555Arg) rs141543499 0.00027
NM_002473.6(MYH9):c.2085C>T (p.Asn695=) rs375953430 0.00022
NM_014915.3(ANKRD26):c.153C>G (p.His51Gln) rs139049098 0.00021
NM_000377.3(WAS):c.1339-18G>A rs370010448 0.00020
NM_002473.6(MYH9):c.3255C>T (p.Leu1085=) rs142427583 0.00020
NM_024420.3(PLA2G4A):c.1962T>G (p.Gly654=) rs12720691 0.00020
NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) rs151048660 0.00020
NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) rs147732725 0.00020
NM_000377.3(WAS):c.1191G>A (p.Pro397=) rs782486251 0.00019
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu) rs782307200 0.00019
NM_018943.3(TUBA8):c.967G>A (p.Val323Met) rs151102020 0.00019
NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) rs149953167 0.00019
NM_005373.3(MPL):c.79+2T>A rs146249964 0.00018
NM_002473.6(MYH9):c.2808G>A (p.Ala936=) rs200550959 0.00017
NM_002473.6(MYH9):c.5483+18C>T rs376924627 0.00017
NM_002473.6(MYH9):c.705+15G>A rs373901192 0.00017
NM_002473.6(MYH9):c.3246G>A (p.Glu1082=) rs147961725 0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn) rs138193963 0.00016
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002473.6(MYH9):c.928A>G (p.Ile310Val) rs149789202 0.00013
NM_002473.6(MYH9):c.1212G>A (p.Ala404=) rs148832136 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002473.6(MYH9):c.5593-4G>A rs369769391 0.00012
NM_030773.4(TUBB1):c.965C>T (p.Ser322Phe) rs147941536 0.00012
NM_002473.6(MYH9):c.3701A>G (p.Lys1234Arg) rs544801273 0.00011
NM_005476.7(GNE):c.1892C>T (p.Ala631Val) rs62541771 0.00011
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His) rs570515282 0.00010
NM_000377.3(WAS):c.559+3G>A rs782645822 0.00010
NM_002473.6(MYH9):c.1012+20A>G rs748163536 0.00010
NM_002473.6(MYH9):c.2115C>T (p.Arg705=) rs372243275 0.00010
NM_000377.3(WAS):c.803G>A (p.Arg268Gln) rs376560886 0.00009
NM_002473.6(MYH9):c.4008C>T (p.Asp1336=) rs373378393 0.00009
NM_005373.3(MPL):c.313T>C (p.Phe105Leu) rs145313814 0.00009
NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln) rs139951127 0.00009
NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) rs370060687 0.00009
NM_002473.6(MYH9):c.4558-11C>G rs200820677 0.00008
NM_139027.6(ADAMTS13):c.2861G>A (p.Arg954Gln) rs200273776 0.00008
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_139027.6(ADAMTS13):c.775G>A (p.Gly259Ser) rs886063632 0.00007
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) rs369140365 0.00006
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu) rs782666797 0.00006
NM_000377.3(WAS):c.273+14C>T rs782249573 0.00006
NM_002473.6(MYH9):c.1788C>T (p.Ile596=) rs113130911 0.00006
NM_002473.6(MYH9):c.4050G>C (p.Glu1350Asp) rs375955867 0.00006
NM_002473.6(MYH9):c.4479G>A (p.Ala1493=) rs149271663 0.00006
NM_002473.6(MYH9):c.4684C>G (p.Leu1562Val) rs139039608 0.00006
NM_002473.6(MYH9):c.4753A>C (p.Lys1585Gln) rs149169068 0.00006
NM_005373.3(MPL):c.622C>A (p.Gln208Lys) rs111460954 0.00006
NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys) rs139214644 0.00006
NM_139027.6(ADAMTS13):c.3545C>T (p.Ala1182Val) rs587697598 0.00006
NM_139027.6(ADAMTS13):c.3975dup (p.Glu1326fs) rs387906343 0.00006
NM_000377.3(WAS):c.941C>T (p.Pro314Leu) rs782752881 0.00005
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_002473.6(MYH9):c.3384T>C (p.Asn1128=) rs531623930 0.00005
NM_005373.3(MPL):c.173C>T (p.Ala58Val) rs6087 0.00005
NM_005373.3(MPL):c.235_236del (p.Leu79fs) rs587778514 0.00005
NM_139027.6(ADAMTS13):c.4020G>T (p.Lys1340Asn) rs782518928 0.00005
NM_139027.6(ADAMTS13):c.540-3G>A rs886063631 0.00005
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser) rs782761074 0.00004
NM_000377.3(WAS):c.463+3G>C rs1274245256 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_002473.6(MYH9):c.1686G>A (p.Leu562=) rs199506577 0.00004
NM_002473.6(MYH9):c.2159+6C>T rs748916231 0.00004
NM_002473.6(MYH9):c.2714G>A (p.Arg905His) rs727503289 0.00004
NM_002473.6(MYH9):c.2838+19C>T rs199611979 0.00004
NM_002473.6(MYH9):c.3022C>G (p.Leu1008Val) rs535649291 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939 0.00004
NM_139027.6(ADAMTS13):c.2089G>A (p.Val697Met) rs367818172 0.00004
NM_139027.6(ADAMTS13):c.3159G>A (p.Ala1053=) rs200349242 0.00004
NM_139027.6(ADAMTS13):c.3179G>A (p.Arg1060Gln) rs587731517 0.00004
NM_139027.6(ADAMTS13):c.3431C>A (p.Thr1144Lys) rs141056078 0.00004
NM_139027.6(ADAMTS13):c.539+6C>T rs782661001 0.00004
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu) rs782636781 0.00003
NM_000377.3(WAS):c.339C>T (p.Phe113=) rs782233413 0.00003
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_002473.6(MYH9):c.1201G>A (p.Val401Ile) rs369581570 0.00003
NM_002473.6(MYH9):c.193G>A (p.Val65Met) rs377348805 0.00003
NM_002473.6(MYH9):c.3181A>T (p.Ser1061Cys) rs199971000 0.00003
NM_002473.6(MYH9):c.4079C>G (p.Ala1360Gly) rs373384951 0.00003
NM_002473.6(MYH9):c.4218C>T (p.Ala1406=) rs142957635 0.00003
NM_002473.6(MYH9):c.4897C>T (p.Arg1633Trp) rs757547632 0.00003
NM_002473.6(MYH9):c.5173C>T (p.Arg1725Trp) rs547770783 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_005373.3(MPL):c.212G>A (p.Arg71Gln) rs368753117 0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile) rs768384042 0.00003
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_005476.7(GNE):c.916C>T (p.Arg306Ter) rs1057516374 0.00003
NM_139027.6(ADAMTS13):c.1841A>C (p.Asn614Thr) rs782396358 0.00003
NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) rs121908470 0.00003
NM_000377.3(WAS):c.420C>T (p.Leu140=) rs782639067 0.00002
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) rs782149318 0.00002
NM_000377.3(WAS):c.975G>C (p.Gln325His) rs930931192 0.00002
NM_001377304.1(GFI1B):c.551G>A (p.Arg184His) rs570058270 0.00002
NM_002049.4(GATA1):c.599-9C>T rs1369447266 0.00002
NM_002473.6(MYH9):c.2713C>T (p.Arg905Cys) rs377115843 0.00002
NM_002473.6(MYH9):c.2838+10C>T rs1027216058 0.00002
NM_002473.6(MYH9):c.2844T>G (p.Leu948=) rs763022319 0.00002
NM_002473.6(MYH9):c.3082A>G (p.Met1028Val) rs1205000981 0.00002
NM_002473.6(MYH9):c.3272+19C>T rs984743795 0.00002
NM_002473.6(MYH9):c.3742A>G (p.Lys1248Glu) rs1276028189 0.00002
NM_002473.6(MYH9):c.4302G>C (p.Gln1434His) rs143979758 0.00002
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_002473.6(MYH9):c.833A>G (p.Tyr278Cys) rs727504863 0.00002
NM_005373.3(MPL):c.1805T>C (p.Met602Thr) rs770770219 0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) rs758428763 0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr) rs769745306 0.00002
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603 0.00002
NM_139027.6(ADAMTS13):c.3449G>A (p.Arg1150Gln) rs781885530 0.00002
NM_139027.6(ADAMTS13):c.3554T>C (p.Met1185Thr) rs1057522240 0.00002
NM_139027.6(ADAMTS13):c.460G>A (p.Val154Ile) rs369026148 0.00002
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) rs895243178 0.00001
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) rs782602857 0.00001
NM_000377.3(WAS):c.867T>C (p.Leu289=) rs781855402 0.00001
NM_000377.3(WAS):c.897G>A (p.Gly299=) rs782793103 0.00001
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) rs372779500 0.00001
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) rs782802310 0.00001
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe) rs201767533 0.00001
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu) rs1242032695 0.00001
NM_001791.4(CDC42):c.510C>T (p.Asp170=) rs200782611 0.00001
NM_001791.4(CDC42):c.529C>T (p.Leu177=) rs759623419 0.00001
NM_002473.6(MYH9):c.1518C>T (p.Leu506=) rs745614690 0.00001
NM_002473.6(MYH9):c.154G>A (p.Glu52Lys) rs779218645 0.00001
NM_002473.6(MYH9):c.2230-9C>T rs1221817075 0.00001
NM_002473.6(MYH9):c.2263C>T (p.Arg755Cys) rs768721880 0.00001
NM_002473.6(MYH9):c.2500-9C>T rs1364784964 0.00001
NM_002473.6(MYH9):c.278A>G (p.Asn93Ser) rs1359996610 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002473.6(MYH9):c.3397C>G (p.Gln1133Glu) rs368797590 0.00001
NM_002473.6(MYH9):c.3452C>T (p.Thr1151Met) rs375081687 0.00001
NM_002473.6(MYH9):c.4128T>C (p.Ser1376=) rs199506931 0.00001
NM_002473.6(MYH9):c.4298G>A (p.Arg1433His) rs530533580 0.00001
NM_002473.6(MYH9):c.4306G>A (p.Ala1436Thr) rs373912645 0.00001
NM_002473.6(MYH9):c.4883C>T (p.Ser1628Leu) rs750410479 0.00001
NM_002473.6(MYH9):c.4927C>A (p.Leu1643Met) rs727504669 0.00001
NM_002473.6(MYH9):c.5177G>A (p.Arg1726His) rs777701033 0.00001
NM_002473.6(MYH9):c.5235G>A (p.Thr1745=) rs727504684 0.00001
NM_002473.6(MYH9):c.720C>T (p.Arg240=) rs556214390 0.00001
NM_002473.6(MYH9):c.868+14C>T rs769515479 0.00001
NM_002473.6(MYH9):c.888G>A (p.Pro296=) rs559813309 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 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.1431G>A (p.Trp477Ter) rs1169744090 0.00001
NM_005373.3(MPL):c.1566-1G>A rs1570474015 0.00001
NM_005373.3(MPL):c.981-1G>C rs769297582 0.00001
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln) rs780092539 0.00001
NM_005476.7(GNE):c.2135T>C (p.Met712Thr) rs28937594 0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His) rs747640708 0.00001
NM_005476.7(GNE):c.893T>C (p.Ile298Thr) rs757091387 0.00001
NM_139027.6(ADAMTS13):c.330+2T>C rs1474290508 0.00001
NM_139027.6(ADAMTS13):c.3400+136T>A rs782166349 0.00001
NM_139027.6(ADAMTS13):c.3400+93C>T rs587664518 0.00001
NM_139027.6(ADAMTS13):c.3839G>A (p.Arg1280Gln) rs782213090 0.00001
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) rs2062429013
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) rs2062430236
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) rs2062432588
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg) rs797044476
NM_000377.3(WAS):c.470G>A (p.Arg157His) rs369850591
NM_000377.3(WAS):c.498C>G (p.Ala166=) rs2147264155
NM_000377.3(WAS):c.560-5dup rs782563873
NM_000419.5(ITGA2B):c.891+12del rs373578804
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala) rs2140158660
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys) rs753214223
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln) rs771484089
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002473.6(MYH9):c.1056C>T (p.Ile352=) rs727504861
NM_002473.6(MYH9):c.1843+12G>C rs150539764
NM_002473.6(MYH9):c.19G>T (p.Asp7Tyr) rs762745890
NM_002473.6(MYH9):c.2037+14G>T rs727504713
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp) rs1184544985
NM_002473.6(MYH9):c.2296G>A (p.Gly766Ser) rs757850500
NM_002473.6(MYH9):c.255C>T (p.Asp85=) rs569718443
NM_002473.6(MYH9):c.3272+3G>T rs1238385506
NM_002473.6(MYH9):c.3673G>A (p.Glu1225Lys) rs770864107
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) rs200697030
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.3728C>T (p.Ser1243Leu) rs959272684
NM_002473.6(MYH9):c.3817G>A (p.Asp1273Asn) rs147031322
NM_002473.6(MYH9):c.3877G>A (p.Asp1293Asn) rs778278736
NM_002473.6(MYH9):c.4179C>G (p.Asp1393Glu) rs727504829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp) rs770433607
NM_002473.6(MYH9):c.5275-10del rs552643559
NM_002473.6(MYH9):c.5314C>T (p.His1772Tyr) rs1455355336
NM_002473.6(MYH9):c.5593-14G>T rs201676960
NM_002473.6(MYH9):c.5764A>C (p.Arg1922=) rs1603482692
NM_002473.6(MYH9):c.659C>T (p.Ala220Val) rs1190062913
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_005373.3(MPL):c.1653+1del rs755257605
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) rs1443655691
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) rs786204558
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_014915.3(ANKRD26):c.-128G>A rs1589393809
NM_014915.3(ANKRD26):c.937G>A (p.Asp313Asn) rs61730102
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.1309-20C>G rs2130845090
NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) rs138699340
NM_139027.6(ADAMTS13):c.3167C>T (p.Ala1056Val) rs376017677
NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) rs782463983
NM_139027.6(ADAMTS13):c.373C>T (p.Arg125Trp) rs587701622
NM_139027.6(ADAMTS13):c.3794A>G (p.Asn1265Ser) rs200645384

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