ClinVar Miner

List of variants in gene MMAA reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_172250.3(MMAA):c.*2608T>C rs7699187 0.51441
NM_172250.3(MMAA):c.*2768A>T rs7699166 0.51403
NM_172250.3(MMAA):c.*2866A>G rs17020500 0.22820
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_172250.3(MMAA):c.*3621G>A rs55770806 0.07335
NM_172250.3(MMAA):c.-56A>G rs4835011 0.06388
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_172250.3(MMAA):c.*2142T>C rs72723824 0.03954
NM_172250.3(MMAA):c.*2658G>A rs72723825 0.03953
NM_172250.3(MMAA):c.*306T>A rs74409983 0.03738
NM_172250.3(MMAA):c.*3285G>A rs142885287 0.03017
NM_172250.3(MMAA):c.*2364A>G rs13129907 0.02803
NM_172250.3(MMAA):c.*2372T>A rs74719174 0.02233
NM_172250.3(MMAA):c.*434C>T rs72950841 0.01492
NM_172250.3(MMAA):c.*4119del rs200143270 0.01489
NM_172250.3(MMAA):c.*3824C>A rs72950842 0.01396
NM_172250.3(MMAA):c.*4336A>G rs138752110 0.01347
NM_172250.3(MMAA):c.*1782A>G rs114134771 0.01301
NM_172250.3(MMAA):c.138T>C (p.Ser46=) rs34702224 0.01204
NM_172250.3(MMAA):c.*600G>A rs112882351 0.00820
NM_172250.3(MMAA):c.*2807C>T rs7675466 0.00480
NM_172250.3(MMAA):c.*541A>G rs114729477 0.00424
NM_172250.3(MMAA):c.*1966C>T rs147742767 0.00337
NM_172250.3(MMAA):c.*4326A>T rs182426004 0.00304
NM_172250.3(MMAA):c.*1610C>T rs185925141 0.00285
NM_172250.3(MMAA):c.597G>A (p.Glu199=) rs116773849 0.00262
NM_172250.3(MMAA):c.*4533C>T rs114762906 0.00244
NM_172250.3(MMAA):c.*188A>G rs886059091 0.00233
NM_172250.3(MMAA):c.*97G>C rs148424051 0.00178
NM_172250.3(MMAA):c.*3325C>T rs529131828 0.00170
NM_172250.3(MMAA):c.-14C>T rs138947726 0.00164
NM_172250.3(MMAA):c.*1988A>T rs141116337 0.00156
NM_172250.3(MMAA):c.*3035A>C rs576544645 0.00135
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_172250.3(MMAA):c.*342A>G rs886059093 0.00092
NM_172250.3(MMAA):c.*192G>A rs188845060 0.00078
NM_172250.3(MMAA):c.*1952T>C rs79927727 0.00074
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_172250.3(MMAA):c.*3254A>C rs539831571 0.00048
NM_172250.3(MMAA):c.*4103G>A rs191381122 0.00040
NM_172250.3(MMAA):c.*2562C>T rs529092235 0.00039
NM_172250.3(MMAA):c.*2139A>G rs772671304 0.00029
NM_172250.3(MMAA):c.*1584A>G rs530538534 0.00027
NM_172250.3(MMAA):c.*177A>G rs572996882 0.00027
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys) rs144313458 0.00027
NM_172250.3(MMAA):c.*2471G>A rs886059106 0.00020
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_172250.3(MMAA):c.*3222T>C rs886059112 0.00014
NM_172250.3(MMAA):c.*942A>G rs886059096 0.00013
NM_172250.3(MMAA):c.*1425C>T rs529476650 0.00012
NM_172250.3(MMAA):c.*2808G>A rs543019315 0.00009
NM_172250.3(MMAA):c.*4539T>G rs558703264 0.00009
NM_172250.3(MMAA):c.440-6C>T rs374784209 0.00009
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252 0.00008
NM_172250.3(MMAA):c.977G>A (p.Arg326His) rs201547892 0.00007
NM_172250.3(MMAA):c.*1838G>A rs886059098 0.00006
NM_172250.3(MMAA):c.*2645C>T rs568954220 0.00006
NM_172250.3(MMAA):c.*4228T>C rs533826043 0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_172250.3(MMAA):c.*3087A>G rs983988317 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659 0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807 0.00005
NM_172250.3(MMAA):c.*1227A>T rs375194713 0.00004
NM_172250.3(MMAA):c.*1284G>A rs564976817 0.00004
NM_172250.3(MMAA):c.*2903C>T rs886059110 0.00004
NM_172250.3(MMAA):c.*3703T>C rs760429837 0.00004
NM_172250.3(MMAA):c.*4324G>A rs910534961 0.00004
NM_172250.3(MMAA):c.*890G>A rs771012374 0.00004
NM_172250.3(MMAA):c.*1273C>T rs1001420347 0.00003
NM_172250.3(MMAA):c.*1779T>C rs886059097 0.00003
NM_172250.3(MMAA):c.*1940T>C rs1054381866 0.00003
NM_172250.3(MMAA):c.*3801A>G rs886059116 0.00003
NM_172250.3(MMAA):c.*4457A>G rs896375111 0.00003
NM_172250.3(MMAA):c.*152A>G rs749564150 0.00002
NM_172250.3(MMAA):c.*1918G>A rs755382235 0.00002
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu) rs369128670 0.00002
NM_172250.3(MMAA):c.*1819C>G rs983321169 0.00001
NM_172250.3(MMAA):c.*2019A>G rs886059102 0.00001
NM_172250.3(MMAA):c.*229T>C rs886059092 0.00001
NM_172250.3(MMAA):c.*2378A>G rs886059104 0.00001
NM_172250.3(MMAA):c.*2444C>G rs934446234 0.00001
NM_172250.3(MMAA):c.*2479G>A rs886059107 0.00001
NM_172250.3(MMAA):c.*2627A>G rs886059109 0.00001
NM_172250.3(MMAA):c.*353C>A rs1302018790 0.00001
NM_172250.3(MMAA):c.*4504C>A rs1009787082 0.00001
NM_172250.3(MMAA):c.*540A>T rs886059094 0.00001
NM_172250.3(MMAA):c.*67G>A rs886059090 0.00001
NM_172250.3(MMAA):c.1099A>G (p.Met367Val) rs754474832 0.00001
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu) rs758345818 0.00001
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln) rs369113922 0.00001
NM_172250.3(MMAA):c.*1149C>G rs999175069
NM_172250.3(MMAA):c.*1221A>G rs1728241243
NM_172250.3(MMAA):c.*1510C>T rs1045440002
NM_172250.3(MMAA):c.*1558C>G rs998811243
NM_172250.3(MMAA):c.*1897_*1901del rs377206435
NM_172250.3(MMAA):c.*190C>T rs1728208709
NM_172250.3(MMAA):c.*1924T>C rs886059100
NM_172250.3(MMAA):c.*1952dup rs150630369
NM_172250.3(MMAA):c.*2343A>G rs886059103
NM_172250.3(MMAA):c.*2445A>C rs886059105
NM_172250.3(MMAA):c.*2448T>C rs914268952
NM_172250.3(MMAA):c.*2479G>T rs886059107
NM_172250.3(MMAA):c.*2617C>A rs886059108
NM_172250.3(MMAA):c.*2622_*2625del rs60186480
NM_172250.3(MMAA):c.*2646G>A rs999780084
NM_172250.3(MMAA):c.*3125C>T rs886059111
NM_172250.3(MMAA):c.*3213C>T rs1317371212
NM_172250.3(MMAA):c.*3257del rs886059113
NM_172250.3(MMAA):c.*3274del rs33978754
NM_172250.3(MMAA):c.*3356del rs577478683
NM_172250.3(MMAA):c.*3385C>T rs1296968983
NM_172250.3(MMAA):c.*3797A>G rs1578891934
NM_172250.3(MMAA):c.*3880G>A rs1728325081
NM_172250.3(MMAA):c.*3934C>G rs753155141
NM_172250.3(MMAA):c.*4044T>C rs556788892
NM_172250.3(MMAA):c.*4200G>T rs1346413343
NM_172250.3(MMAA):c.*581G>T rs936007824
NM_172250.3(MMAA):c.*589C>G rs886059095
NM_172250.3(MMAA):c.*611A>C rs1728220748
NM_172250.3(MMAA):c.*661C>T rs1728222063
NM_172250.3(MMAA):c.*703C>T rs548243828
NM_172250.3(MMAA):c.-66+7915G>A
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg) rs758394680
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile) rs1057520160
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu) rs886059088
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro) rs560188002
NM_172250.3(MMAA):c.718C>G (p.Leu240Val) rs752844506
NM_172250.3(MMAA):c.862G>A (p.Val288Ile) rs886059089

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