ClinVar Miner

List of variants reported as benign for megaloblastic anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp) rs2796835 0.99996
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr) rs1276712 0.99748
NM_006996.3(SLC19A2):c.*60G>A rs2678166 0.98575
NM_000373.4(UMPS):c.*4138T>G rs593292 0.93851
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=) rs1801229 0.73095
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser) rs1801231 0.73090
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_080669.6(SLC46A1):c.*4780C>T rs1128161 0.59678
NM_080669.6(SLC46A1):c.*4884G>T rs1128162 0.59676
NM_080669.6(SLC46A1):c.*4030C>T rs8079943 0.59408
NM_080669.6(SLC46A1):c.*3947G>A rs8081240 0.59034
NM_080669.6(SLC46A1):c.*1407C>T rs2239908 0.58189
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NC_000003.12:g.124730444A>G rs1139538 0.54345
NC_000003.12:g.124730362A>G rs2279198 0.54337
NM_080669.6(SLC46A1):c.*928A>G rs2239907 0.53216
NM_080669.6(SLC46A1):c.*3062C>A rs2239911 0.51926
NM_000373.4(UMPS):c.*726C>T rs649652 0.51631
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NC_000003.12:g.124730405T>C rs2279199 0.44281
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_000373.4(UMPS):c.*1211C>A rs11706118 0.26274
NM_000373.4(UMPS):c.*1711T>G rs10934684 0.24960
NM_000373.4(UMPS):c.*4278G>A rs11927687 0.24793
NM_000373.4(UMPS):c.*3589C>T rs10934685 0.24694
NM_006996.3(SLC19A2):c.*967A>G rs16862199 0.24080
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_000373.4(UMPS):c.1320C>T (p.Gly440=) rs13146 0.17670
NM_000373.4(UMPS):c.*3152G>A rs1979413 0.17658
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019 0.17658
NM_000373.4(UMPS):c.*1051G>T rs2242248 0.17657
NM_000373.4(UMPS):c.*3183dup rs11443775 0.17648
NM_000373.4(UMPS):c.*2995A>G rs1979411 0.17646
NM_000373.4(UMPS):c.*725A>T rs2242247 0.17625
NM_000373.4(UMPS):c.*3990A>T rs77082052 0.17624
NM_000373.4(UMPS):c.*2614G>A rs4677940 0.17342
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_006996.3(SLC19A2):c.-4C>T rs2072757 0.16749
NM_000373.4(UMPS):c.*3026G>A rs1979412 0.16689
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_080669.6(SLC46A1):c.*2853G>A rs739439 0.12712
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_206965.2(FTCD):c.1470C>T (p.Gly490=) rs10432965 0.09606
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08317
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.08051
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_000373.4(UMPS):c.*1319G>A rs821375 0.07438
NM_000373.4(UMPS):c.*4430C>T rs591963 0.07331
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser) rs7898873 0.06787
NM_001081.4(CUBN):c.618C>T (p.Tyr206=) rs41289313 0.06126
NM_001081.4(CUBN):c.1245T>C (p.Gly415=) rs12571671 0.05965
NM_006996.3(SLC19A2):c.*1814G>A rs12091844 0.05951
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=) rs61841454 0.05795
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_080669.6(SLC46A1):c.*3266G>A rs73273104 0.03547
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_000373.4(UMPS):c.*3537G>A rs606369 0.02705
NM_000373.4(UMPS):c.*4486G>A rs591886 0.02695
NM_000373.4(UMPS):c.*4485G>T rs591896 0.02694
NM_000373.4(UMPS):c.*4906G>C rs702039 0.02508
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02354
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02267
NM_006996.3(SLC19A2):c.1215G>A (p.Thr405=) rs61049753 0.02028
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_080669.6(SLC46A1):c.*3785T>C rs117451747 0.02019
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01751
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01713
NM_000373.4(UMPS):c.*3414A>G rs115977637 0.01658
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
NM_000373.4(UMPS):c.1038A>G (p.Pro346=) rs17843835 0.01610
NM_001081.4(CUBN):c.*781C>T rs115080396 0.01607
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu) rs41289303 0.01542
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_000373.4(UMPS):c.*4739G>T rs73858830 0.01271
NM_000373.4(UMPS):c.*993A>T rs74704429 0.01265
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_000373.4(UMPS):c.1050T>A (p.Val350=) rs2291078 0.01154
NM_000373.4(UMPS):c.*28A>G rs3772810 0.01145
NM_000373.4(UMPS):c.*983C>T rs11706036 0.01142
NM_000373.4(UMPS):c.*3376C>T rs76151694 0.01141
NM_000373.4(UMPS):c.*4252G>T rs117707217 0.01141
NM_000373.4(UMPS):c.*526A>G rs2242246 0.01140
NM_000373.4(UMPS):c.*4717C>T rs117624716 0.01139
NM_000373.4(UMPS):c.*1326C>A rs2242249 0.01137
NM_000373.4(UMPS):c.1336A>G (p.Ile446Val) rs3772809 0.01116
NM_080669.6(SLC46A1):c.*729G>A rs41297903 0.01106
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00789
NM_000373.4(UMPS):c.*3131G>A rs140750390 0.00779
NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) rs75099879 0.00758
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00756
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483 0.00681
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_001081.4(CUBN):c.2445C>T (p.Val815=) rs116350428 0.00561
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr) rs115048360 0.00561
NM_080669.6(SLC46A1):c.*2746G>A rs11871687 0.00541
NM_080669.6(SLC46A1):c.*2217A>G rs41297923 0.00539
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_080669.6(SLC46A1):c.*1243A>G rs41297909 0.00501
NM_080669.6(SLC46A1):c.*2248T>C rs8082600 0.00495
NM_080669.6(SLC46A1):c.*692A>T rs112801276 0.00456
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala) rs115449747 0.00403
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_000373.4(UMPS):c.*4344T>C rs180944864 0.00372
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_000373.4(UMPS):c.*3020G>A rs185476268 0.00281
NM_000373.4(UMPS):c.*1931G>A rs143926148 0.00269
NM_000373.4(UMPS):c.*3785C>G rs181697356 0.00269
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_000373.4(UMPS):c.*1088T>G rs535422876 0.00204
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_080669.6(SLC46A1):c.*2843G>A rs118138669 0.00108
NM_080669.6(SLC46A1):c.*1774A>G rs2239909 0.00050
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_080669.6(SLC46A1):c.*671C>T rs41297123 0.00026
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_000373.4(UMPS):c.*5014C>T rs569469184 0.00001
NM_000373.4(UMPS):c.*1299del rs11330991
NM_000373.4(UMPS):c.*2718C>T rs201997594
NM_000373.4(UMPS):c.*2930TTTG[4] rs10631393
NM_000373.4(UMPS):c.*4316C>A rs689449
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys) rs1801232
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=) rs1801232
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_080669.6(SLC46A1):c.*2968C>T rs12453383
NM_080669.6(SLC46A1):c.*3009= rs2239910
NM_080669.6(SLC46A1):c.*4584C>T rs116278566
NM_080669.6(SLC46A1):c.*4635dup rs34879232
NM_080669.6(SLC46A1):c.189G>C (p.Arg63Ser) rs41297071

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