ClinVar Miner

List of variants studied for macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_002473.6(MYH9):c.*596G>A rs136200 0.32779
NM_002473.6(MYH9):c.*261G>C rs11089787 0.25506
NM_002473.6(MYH9):c.*800T>C rs7078 0.23633
NM_002473.6(MYH9):c.*238G>T rs11703176 0.22062
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309
NM_002473.6(MYH9):c.*732C>T rs12107 0.16843
NM_002473.6(MYH9):c.*1314C>T rs2481 0.15103
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) rs5756130 0.07263
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) rs9619601 0.04672
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_002473.6(MYH9):c.*312C>T rs16996639 0.02830
NM_002473.6(MYH9):c.*137C>A rs114268057 0.02699
NM_002473.6(MYH9):c.*136C>A rs115869378 0.02697
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_002473.5(MYH9):c.-201G>A rs189394948 0.01205
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) rs7285745 0.01011
NM_002473.6(MYH9):c.*243C>T rs136201 0.00965
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_002473.6(MYH9):c.*1329C>T rs146582828 0.00786
NM_002473.6(MYH9):c.*686C>T rs55994070 0.00779
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_002473.5(MYH9):c.*1394C>T rs144335048 0.00657
NM_002473.6(MYH9):c.*81C>T rs56134611 0.00569
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) rs148109368 0.00198
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_002473.5(MYH9):c.-182G>T rs868824019 0.00179
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_002473.6(MYH9):c.*1204A>T rs56360445 0.00137
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_002473.6(MYH9):c.1176G>A (p.Pro392=) rs143316848 0.00121
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_002473.6(MYH9):c.-19-7C>T rs184332718 0.00111
NM_002473.6(MYH9):c.*645C>G rs527539496 0.00104
NM_002473.6(MYH9):c.*474C>T rs55979529 0.00091
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.615C>T (p.Gly205=) rs139466141 0.00088
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_002473.6(MYH9):c.*8C>T rs201455315 0.00081
NM_002473.5(MYH9):c.*1399C>T rs544966086 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
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.3216G>A (p.Ala1072=) rs139441456 0.00055
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) rs34498733 0.00038
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_002473.6(MYH9):c.*329C>T rs566336121 0.00035
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002473.6(MYH9):c.*748A>G rs568025076 0.00032
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_002473.6(MYH9):c.*906G>T rs192511111 0.00030
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) rs146184921 0.00030
NM_002473.6(MYH9):c.4359G>A (p.Glu1453=) rs202127454 0.00028
NM_002473.6(MYH9):c.*325C>T rs189775203 0.00026
NM_002473.6(MYH9):c.5878G>A (p.Glu1960Lys) rs149560153 0.00026
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_002473.6(MYH9):c.*193C>T rs181364853 0.00023
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) rs143801000 0.00022
NM_002473.6(MYH9):c.18C>T (p.Ala6=) rs141055332 0.00021
NM_002473.6(MYH9):c.*978A>G rs886057472 0.00020
NM_002473.6(MYH9):c.1098C>T (p.Pro366=) rs537679678 0.00020
NM_002473.6(MYH9):c.*802T>G rs528245823 0.00017
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) rs148632964 0.00016
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_002473.6(MYH9):c.543G>A (p.Thr181=) rs146514663 0.00015
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_002473.6(MYH9):c.132C>T (p.Ala44=) rs138526426 0.00013
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) rs145444485 0.00012
NM_002473.6(MYH9):c.3852C>T (p.Asn1284=) rs200272787 0.00011
NM_002473.6(MYH9):c.4247C>T (p.Thr1416Met) rs758626716 0.00011
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_002473.6(MYH9):c.4345-11C>G rs376040199 0.00008
NM_002473.6(MYH9):c.*195T>C rs771229879 0.00007
NM_002473.6(MYH9):c.5074G>A (p.Ala1692Thr) rs767426084 0.00007
NM_002473.6(MYH9):c.*73C>T rs1045383138 0.00006
NM_002473.6(MYH9):c.1578C>G (p.Ala526=) rs201827299 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002473.6(MYH9):c.5787C>T (p.Val1929=) rs367698156 0.00006
NM_002473.6(MYH9):c.*1026C>G rs779365782 0.00005
NM_002473.6(MYH9):c.*539G>A rs533769148 0.00005
NM_002473.6(MYH9):c.*74G>A rs886057477 0.00005
NM_002473.6(MYH9):c.2205C>T (p.Asp735=) rs370860479 0.00005
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) rs200328859 0.00005
NM_002473.6(MYH9):c.2691C>T (p.Ala897=) rs148883810 0.00005
NM_002473.6(MYH9):c.3638C>G (p.Ala1213Gly) rs886057481 0.00005
NM_002473.6(MYH9):c.4297C>T (p.Arg1433Cys) rs727503286 0.00005
NM_002473.6(MYH9):c.5717C>T (p.Thr1906Met) rs149663189 0.00005
NM_002473.6(MYH9):c.933C>T (p.Pro311=) rs202045249 0.00005
NM_002473.6(MYH9):c.1728+7A>G rs201942027 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002473.6(MYH9):c.3915G>A (p.Ala1305=) rs183685723 0.00004
NM_002473.6(MYH9):c.4830C>T (p.Ala1610=) rs751904301 0.00004
NM_002473.6(MYH9):c.552C>T (p.Thr184=) rs764398831 0.00004
NM_002473.6(MYH9):c.-153C>T rs886057485 0.00003
NM_002473.6(MYH9):c.1729-5G>A rs770021950 0.00003
NM_002473.6(MYH9):c.1899C>T (p.Pro633=) rs749696998 0.00003
NM_002473.6(MYH9):c.2041G>A (p.Gly681Ser) rs145241551 0.00003
NM_002473.6(MYH9):c.2226C>T (p.Leu742=) rs762499584 0.00003
NM_002473.6(MYH9):c.233C>T (p.Pro78Leu) rs150313549 0.00003
NM_002473.6(MYH9):c.3453G>A (p.Thr1151=) rs574230328 0.00003
NM_002473.6(MYH9):c.3606G>A (p.Ala1202=) rs771461880 0.00003
NM_002473.6(MYH9):c.4077C>T (p.Ile1359=) rs199693307 0.00003
NM_002473.6(MYH9):c.4972C>T (p.Arg1658Cys) rs143972348 0.00003
NM_002473.6(MYH9):c.5191A>G (p.Ile1731Val) rs1205219578 0.00003
NM_002473.6(MYH9):c.585G>A (p.Ala195=) rs374395918 0.00003
NM_002473.6(MYH9):c.1722C>T (p.Ala574=) rs373381680 0.00002
NM_002473.6(MYH9):c.318C>T (p.Tyr106=) rs202117532 0.00002
NM_002473.6(MYH9):c.3739C>T (p.Arg1247Cys) rs750911335 0.00002
NM_002473.6(MYH9):c.4025G>A (p.Arg1342Gln) rs758159686 0.00002
NM_002473.6(MYH9):c.4305C>T (p.Ser1435=) rs768359816 0.00002
NM_002473.6(MYH9):c.4348C>T (p.Leu1450=) rs764948348 0.00002
NM_002473.6(MYH9):c.4728G>A (p.Arg1576=) rs756867174 0.00002
NM_002473.6(MYH9):c.*1330A>G rs1374073858 0.00001
NM_002473.6(MYH9):c.*13G>A rs750071451 0.00001
NM_002473.6(MYH9):c.*656T>C rs886057474 0.00001
NM_002473.6(MYH9):c.1150G>A (p.Asp384Asn) rs767088377 0.00001
NM_002473.6(MYH9):c.1188G>A (p.Val396=) rs147972823 0.00001
NM_002473.6(MYH9):c.1344C>T (p.Ile448=) rs150125254 0.00001
NM_002473.6(MYH9):c.1590G>A (p.Glu530=) rs533935135 0.00001
NM_002473.6(MYH9):c.1890C>T (p.Thr630=) rs762239398 0.00001
NM_002473.6(MYH9):c.2500-9C>T rs1364784964 0.00001
NM_002473.6(MYH9):c.2598C>G (p.Asn866Lys) rs750718366 0.00001
NM_002473.6(MYH9):c.2607G>A (p.Thr869=) rs751880371 0.00001
NM_002473.6(MYH9):c.2977-10C>T rs188843586 0.00001
NM_002473.6(MYH9):c.3371G>A (p.Arg1124His) rs765237081 0.00001
NM_002473.6(MYH9):c.3561C>A (p.Ile1187=) rs876657520 0.00001
NM_002473.6(MYH9):c.3605C>T (p.Ala1202Val) rs772915368 0.00001
NM_002473.6(MYH9):c.3838-11G>A rs754547754 0.00001
NM_002473.6(MYH9):c.420C>T (p.Gly140=) rs372621048 0.00001
NM_002473.6(MYH9):c.4391G>A (p.Arg1464His) rs199968414 0.00001
NM_002473.6(MYH9):c.4955G>A (p.Arg1652His) rs779135945 0.00001
NM_002473.6(MYH9):c.5108G>A (p.Arg1703Gln) rs754714910 0.00001
NM_002473.6(MYH9):c.519-6T>G rs867195616 0.00001
NM_002473.6(MYH9):c.5489G>A (p.Arg1830His) rs966415372 0.00001
NM_002473.6(MYH9):c.5671G>A (p.Ala1891Thr) rs748946434 0.00001
NM_002473.6(MYH9):c.5766-5C>T rs746967490 0.00001
NM_002473.6(MYH9):c.5769C>T (p.Arg1923=) rs370834297 0.00001
NM_002473.6(MYH9):c.*107A>G rs886057476
NM_002473.6(MYH9):c.*1099A>T rs886057471
NM_002473.6(MYH9):c.*1160del rs56058205
NM_002473.6(MYH9):c.*1193A>G rs886057470
NM_002473.6(MYH9):c.*198dup rs886057475
NM_002473.6(MYH9):c.*248C>T rs2016505869
NM_002473.6(MYH9):c.*273C>T rs1021214858
NM_002473.6(MYH9):c.*639C>T rs554451749
NM_002473.6(MYH9):c.*975A>G rs886057473
NM_002473.6(MYH9):c.-163C>G rs886057486
NM_002473.6(MYH9):c.-86G>T rs2018382496
NM_002473.6(MYH9):c.1048G>A (p.Gly350Ser) rs1464752413
NM_002473.6(MYH9):c.1083C>G (p.Asp361Glu) rs56001030
NM_002473.6(MYH9):c.115A>G (p.Ser39Gly) rs2017727253
NM_002473.6(MYH9):c.1273A>T (p.Met425Leu) rs961182177
NM_002473.6(MYH9):c.1539C>A (p.Asp513Glu) rs886057484
NM_002473.6(MYH9):c.1555-15C>T rs2017076105
NM_002473.6(MYH9):c.1555G>A (p.Ala519Thr) rs2017075745
NM_002473.6(MYH9):c.2038-4C>G rs200135917
NM_002473.6(MYH9):c.2217G>C (p.Ala739=) rs756586731
NM_002473.6(MYH9):c.2230-11C>A rs374467213
NM_002473.6(MYH9):c.2391-7C>T rs886057483
NM_002473.6(MYH9):c.2442G>A (p.Arg814=) rs113783861
NM_002473.6(MYH9):c.2632-8_2632-6del rs773975934
NM_002473.6(MYH9):c.2653C>T (p.Leu885=) rs2016868693
NM_002473.6(MYH9):c.3136C>G (p.Leu1046Val) rs886057482
NM_002473.6(MYH9):c.333+14G>A rs768688000
NM_002473.6(MYH9):c.3677G>A (p.Arg1226Gln) rs200697030
NM_002473.6(MYH9):c.3884A>G (p.Lys1295Arg) rs886057480
NM_002473.6(MYH9):c.4126A>G (p.Ser1376Gly) rs771692651
NM_002473.6(MYH9):c.4283A>G (p.Asp1428Gly) rs2016713858
NM_002473.6(MYH9):c.445C>A (p.His149Asn) rs2017588115
NM_002473.6(MYH9):c.4466T>C (p.Met1489Thr) rs2016643084
NM_002473.6(MYH9):c.4474A>G (p.Lys1492Glu) rs750188842
NM_002473.6(MYH9):c.448A>G (p.Ile150Val) rs2017587954
NM_002473.6(MYH9):c.4654G>A (p.Glu1552Lys) rs886057479
NM_002473.6(MYH9):c.4855C>T (p.Leu1619=) rs778679056
NM_002473.6(MYH9):c.4959G>C (p.Glu1653Asp) rs1035118799
NM_002473.6(MYH9):c.5050C>T (p.Gln1684Ter) rs1569534723
NM_002473.6(MYH9):c.519-10del rs754795681
NM_002473.6(MYH9):c.5271G>T (p.Leu1757=) rs886057478
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5593-14G>A rs201676960
NM_002473.6(MYH9):c.5766-3del rs141686520
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551

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