ClinVar Miner

List of variants in gene LMAN1 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_005570.4(LMAN1):c.*2929T>C rs4806 0.27360
NM_005570.4(LMAN1):c.351A>G (p.Arg117=) rs1127220 0.23450
NM_005570.4(LMAN1):c.*2217G>A rs7236294 0.11367
NM_005570.4(LMAN1):c.1228A>T (p.Met410Leu) rs2298711 0.10604
NM_005570.4(LMAN1):c.*2387A>G rs34679996 0.10136
NM_005570.4(LMAN1):c.*1799A>C rs1043334 0.09774
NM_005570.4(LMAN1):c.*2063C>G rs7239187 0.08931
NM_005570.4(LMAN1):c.*2405C>A rs34753206 0.05461
NM_005570.4(LMAN1):c.*2184A>G rs41370447 0.01057
NM_005570.4(LMAN1):c.957G>A (p.Ala319=) rs61733371 0.00861
NM_005570.4(LMAN1):c.*164A>G rs41332251 0.00758
NM_005570.4(LMAN1):c.*1822G>T rs151128517 0.00725
NM_005570.4(LMAN1):c.936C>T (p.Pro312=) rs145829103 0.00609
NM_005570.4(LMAN1):c.*2359A>G rs41522247 0.00504
NM_005570.4(LMAN1):c.*57G>A rs41355245 0.00366
NM_005570.4(LMAN1):c.*1921T>C rs74735102 0.00327
NM_005570.4(LMAN1):c.*3107T>A rs3760558 0.00267
NM_005570.4(LMAN1):c.*490C>T rs117480907 0.00265
NM_005570.4(LMAN1):c.821C>T (p.Pro274Leu) rs41476148 0.00241
NM_005570.4(LMAN1):c.*753T>C rs182108487 0.00219
NM_005570.4(LMAN1):c.*416C>T rs140370262 0.00130
NM_005570.4(LMAN1):c.214+7C>T rs2277728 0.00080
NM_005570.4(LMAN1):c.*2637T>C rs769626957 0.00068
NM_005570.4(LMAN1):c.*652T>C rs185861958 0.00063
NM_005570.4(LMAN1):c.1221-4T>C rs200829791 0.00061
NM_005570.4(LMAN1):c.*2021A>C rs140144803 0.00059
NM_005570.4(LMAN1):c.1319A>G (p.Lys440Arg) rs147071939 0.00051
NM_005570.4(LMAN1):c.1392G>A (p.Pro464=) rs149932943 0.00050
NM_005570.4(LMAN1):c.*48G>A rs148071519 0.00045
NM_005570.4(LMAN1):c.*2044A>G rs191555835 0.00038
NM_005570.4(LMAN1):c.1411C>T (p.Pro471Ser) rs140260039 0.00035
NM_005570.4(LMAN1):c.478-15T>C rs183354795 0.00034
NM_005570.4(LMAN1):c.*185A>T rs764761931 0.00031
NM_005570.4(LMAN1):c.*1493A>G rs529247031 0.00029
NM_005570.4(LMAN1):c.1050G>T (p.Arg350=) rs185875271 0.00027
NM_005570.4(LMAN1):c.*1616A>G rs543483287 0.00026
NM_005570.4(LMAN1):c.*210G>A rs182963083 0.00025
NM_005570.4(LMAN1):c.*424T>G rs886054037 0.00025
NM_005570.4(LMAN1):c.*1298A>G rs762134361 0.00019
NM_005570.4(LMAN1):c.*939C>T rs149781610 0.00019
NM_005570.4(LMAN1):c.846G>A (p.Ser282=) rs377676111 0.00018
NM_005570.4(LMAN1):c.*571T>C rs541441878 0.00012
NM_005570.4(LMAN1):c.*492T>C rs755899010 0.00011
NM_005570.4(LMAN1):c.*1631A>G rs767155286 0.00010
NM_005570.4(LMAN1):c.*2099C>T rs765984474 0.00009
NM_005570.4(LMAN1):c.*319A>G rs1005400095 0.00008
NM_005570.4(LMAN1):c.638C>T (p.Thr213Ile) rs144038994 0.00007
NM_005570.4(LMAN1):c.*1988C>T rs886054033 0.00006
NM_005570.4(LMAN1):c.1412C>T (p.Pro471Leu) rs770116653 0.00005
NM_005570.4(LMAN1):c.539+3A>G rs201868497 0.00005
NM_005570.4(LMAN1):c.*1168C>T rs770166340 0.00004
NM_005570.4(LMAN1):c.*1565C>T rs140930139 0.00004
NM_005570.4(LMAN1):c.*2541T>C rs907209594 0.00004
NM_005570.4(LMAN1):c.*1332C>G rs779423308 0.00003
NM_005570.4(LMAN1):c.*2650G>A rs886054030 0.00003
NM_005570.4(LMAN1):c.-5C>T rs765835101 0.00003
NM_005570.4(LMAN1):c.512A>G (p.Asn171Ser) rs778293644 0.00003
NM_005570.4(LMAN1):c.*1970T>G rs886054034 0.00002
NM_005570.4(LMAN1):c.1434G>A (p.Thr478=) rs748522800 0.00002
NM_005570.4(LMAN1):c.*1271A>G rs186096990 0.00001
NM_005570.4(LMAN1):c.*1300C>T rs1264494097 0.00001
NM_005570.4(LMAN1):c.*1862A>G rs893452939 0.00001
NM_005570.4(LMAN1):c.*2670G>C rs1263821261 0.00001
NM_005570.4(LMAN1):c.*2893G>A rs143943495 0.00001
NM_005570.4(LMAN1):c.*480A>G rs1169482714 0.00001
NM_005570.4(LMAN1):c.*763T>A rs915077070 0.00001
NM_005570.4(LMAN1):c.*794A>G rs534664183 0.00001
NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala) rs374176132 0.00001
NM_005570.4(LMAN1):c.1310T>C (p.Ile437Thr) rs199557121 0.00001
NM_005570.4(LMAN1):c.463G>C (p.Asp155His) rs761881594 0.00001
NM_005570.4(LMAN1):c.597T>C (p.Tyr199=) rs984139447 0.00001
NM_005570.4(LMAN1):c.775G>A (p.Val259Ile) rs948402457 0.00001
NM_005570.4(LMAN1):c.*1164A>G rs2070737289
NM_005570.4(LMAN1):c.*1305A>G rs886054036
NM_005570.4(LMAN1):c.*1390T>C rs566011013
NM_005570.4(LMAN1):c.*1390T>G rs566011013
NM_005570.4(LMAN1):c.*1452_*1455del rs886054035
NM_005570.4(LMAN1):c.*1556C>G rs2070734881
NM_005570.4(LMAN1):c.*21T>G rs2298713
NM_005570.4(LMAN1):c.*2259A>T rs886054032
NM_005570.4(LMAN1):c.*2602G>T rs886054031
NM_005570.4(LMAN1):c.*2923C>T rs561819154
NM_005570.4(LMAN1):c.*860T>G rs41331148
NM_005570.4(LMAN1):c.1149+2T>C rs869312031
NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer) rs869312033
NM_005570.4(LMAN1):c.1366C>T (p.Arg456Ter)
NM_005570.4(LMAN1):c.1391C>G (p.Pro464Arg) rs750667779
NM_005570.4(LMAN1):c.1527C>A (p.Phe509Leu) rs1010921896
NM_005570.4(LMAN1):c.2T>C (p.Met1Thr) rs121909253
NM_005570.4(LMAN1):c.349C>T (p.Arg117Ter)
NM_005570.4(LMAN1):c.477+10T>C rs547944681
NM_005570.4(LMAN1):c.539+5GT[3] rs3835325
NM_005570.4(LMAN1):c.540T>G (p.Asn180Lys) rs886054038
NM_005570.4(LMAN1):c.663A>G (p.Thr221=) rs368261071
NM_005570.4(LMAN1):c.796del (p.Gln266fs) rs869312032
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter) rs183873209

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