ClinVar Miner

List of variants reported as benign for megaloblastic anemia

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 326
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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_001081.4(CUBN):c.593+33dup rs11409967 0.95095
NM_000373.4(UMPS):c.*4138T>G rs593292 0.93851
NM_001081.4(CUBN):c.594-34G>A rs2295813 0.91875
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_001081.4(CUBN):c.2791+130G>A rs4747297 0.86168
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.85809
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83410
NM_000791.4(DHFR):c.-473T>C rs1650697 0.80068
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76044
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.75316
NM_001081.4(CUBN):c.8905+137T>A rs780847 0.75177
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_206965.2(FTCD):c.*108G>A rs12774 0.63657
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_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
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.4970-22A>C rs74668791 0.13460
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_206965.2(FTCD):c.417G>A (p.Pro139=) rs61729391 0.07442
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_206965.2(FTCD):c.1313C>T (p.Ala438Val) rs61735841 0.06786
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_206965.2(FTCD):c.301G>A (p.Val101Met) rs61735836 0.05528
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_001081.4(CUBN):c.2792-18T>A rs10904871 0.05019
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_080669.6(SLC46A1):c.*3266G>A rs73273104 0.03547
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850 0.03521
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_000791.4(DHFR):c.-400A>G rs2405875 0.02618
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
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_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_206965.2(FTCD):c.906+15C>T rs76474184 0.01274
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_000791.4(DHFR):c.-416C>G rs2001675 0.00949
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_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_001081.4(CUBN):c.*737T>C rs114039309 0.00648
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp) rs57163243 0.00641
NM_030943.4(AMN):c.363G>A (p.Gly121=) rs141455061 0.00632
NM_001081.4(CUBN):c.5080+17T>C rs79034718 0.00630
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_206965.2(FTCD):c.919C>T (p.Leu307=) rs141103624 0.00600
NM_206965.2(FTCD):c.239-13C>T rs185291133 0.00599
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
NM_001081.4(CUBN):c.657G>A (p.Gly219=) rs142553474 0.00566
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_001081.4(CUBN):c.6469A>G (p.Asn2157Asp) rs144360241 0.00541
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_206965.2(FTCD):c.457-16G>A rs192895127 0.00528
NM_030943.4(AMN):c.324C>T (p.Asp108=) rs7140429 0.00514
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_030943.4(AMN):c.165G>A (p.Met55Ile) rs61731158 0.00505
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00504
NM_080669.6(SLC46A1):c.*1243A>G rs41297909 0.00501
NM_080669.6(SLC46A1):c.*2248T>C rs8082600 0.00495
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_080669.6(SLC46A1):c.*692A>T rs112801276 0.00456
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
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.9125A>G (p.Asn3042Ser) rs142581908 0.00371
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485 0.00366
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=) rs140184467 0.00358
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile) rs145872906 0.00305
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val) rs76789390 0.00304
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001081.4(CUBN):c.8411-14T>C rs141775273 0.00287
NM_000373.4(UMPS):c.*3020G>A rs185476268 0.00281
NM_030943.4(AMN):c.843+12G>A rs140902778 0.00278
NM_001081.4(CUBN):c.10033-17C>T rs188241873 0.00271
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_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_030943.4(AMN):c.208-16C>T rs202004969 0.00214
NM_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_030943.4(AMN):c.843+11C>T rs369361298 0.00210
NM_000373.4(UMPS):c.*1088T>G rs535422876 0.00204
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=) rs80308930 0.00182
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00180
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile) rs115888073 0.00169
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484 0.00169
NM_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_206965.2(FTCD):c.456+10C>G rs113169471 0.00166
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00159
NM_030943.4(AMN):c.1137G>T (p.Ala379=) rs533317064 0.00159
NM_001081.4(CUBN):c.1417+20T>C rs181536212 0.00156
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373 0.00152
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_206965.2(FTCD):c.36G>A (p.Ser12=) rs150970653 0.00148
NM_001081.4(CUBN):c.1947+9T>A rs376950340 0.00125
NM_001081.4(CUBN):c.2792-6C>G rs185269080 0.00125
NM_030943.4(AMN):c.1169+11C>G rs764673271 0.00115
NM_206965.2(FTCD):c.1220C>A (p.Thr407Lys) rs148920158 0.00115
NM_001081.4(CUBN):c.348+17C>T rs200466568 0.00114
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_080669.6(SLC46A1):c.*2843G>A rs118138669 0.00108
NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala) rs188342700 0.00104
NM_206965.2(FTCD):c.457-14G>A rs201867413 0.00093
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9204C>T (p.Ile3068=) rs117755237 0.00091
NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile) rs117400821 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_030943.4(AMN):c.844-3C>T rs145519816 0.00088
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=) rs145569358 0.00086
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_206965.2(FTCD):c.1337G>A (p.Arg446Gln) rs79021510 0.00086
NM_206965.2(FTCD):c.239-16C>T rs376733737 0.00084
NM_001081.4(CUBN):c.4671T>G (p.Leu1557=) rs151197305 0.00078
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_206965.2(FTCD):c.192C>T (p.Asn64=) rs148787454 0.00059
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
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.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_206965.2(FTCD):c.267C>T (p.Asp89=) rs370444672 0.00039
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_030943.4(AMN):c.909C>T (p.Ala303=) rs373382273 0.00031
NM_206965.2(FTCD):c.1168A>G (p.Thr390Ala) rs201828652 0.00031
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_080669.6(SLC46A1):c.*671C>T rs41297123 0.00026
NM_206965.2(FTCD):c.1261-13C>G rs372484759 0.00022
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_001081.4(CUBN):c.10181-16C>A rs190546478 0.00017
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_206965.2(FTCD):c.368-15C>T rs368792878 0.00016
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_030943.4(AMN):c.93C>T (p.Asp31=) rs772599857 0.00011
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=) rs145909413 0.00010
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg) rs201484266 0.00010
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_206965.2(FTCD):c.477G>A (p.Ala159=) rs764924772 0.00006
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001081.4(CUBN):c.3546G>A (p.Pro1182=) rs369417721 0.00002
NM_000373.4(UMPS):c.*5014C>T rs569469184 0.00001
NM_001081.4(CUBN):c.10287G>A (p.Gln3429=) rs566428134 0.00001
NM_030943.4(AMN):c.1257+10C>T rs386834166 0.00001
NM_206965.2(FTCD):c.94G>T (p.Gly32Cys) rs573745632 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_000791.4(DHFR):c.-406CGCTGCAGC[1] rs758595508
NM_000791.4(DHFR):c.-418GGCCGCTGC[1] rs758960105
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_000791.4(DHFR):c.-442_-434del rs3045983
NM_001081.4(CUBN):c.10181-9del
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.10765-10del
NM_001081.4(CUBN):c.1231-9del
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.2111-15C>G
NM_001081.4(CUBN):c.2257G>A (p.Val753Met)
NM_001081.4(CUBN):c.2301+18A>G rs202001092
NM_001081.4(CUBN):c.2625+15dup
NM_001081.4(CUBN):c.3008+9_3008+12dup rs772081536
NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.4526-9del
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5343-12del
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=) rs146319349
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.4(CUBN):c.8279T>C (p.Ile2760Thr)
NM_001081.4(CUBN):c.9207C>A (p.Thr3069=) rs117936668
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) rs201874762
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_030943.4(AMN):c.1007-39C>T
NM_030943.4(AMN):c.1257+20del
NM_030943.4(AMN):c.1257+20dup rs759269975
NM_030943.4(AMN):c.1257+9del
NM_030943.4(AMN):c.1257+9dup
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.4(AMN):c.163-11T>C
NM_030943.4(AMN):c.296-9C>T rs373204347
NM_030943.4(AMN):c.514-34G>C rs144077391
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
NM_206965.2(FTCD):c.1099-20dup rs541370678
NM_206965.2(FTCD):c.1287A>C (p.Thr429=)
NM_206965.2(FTCD):c.1392C>G (p.Ala464=) rs1047179
NM_206965.2(FTCD):c.1443+17del
NM_206965.2(FTCD):c.1443+4dup rs372045405
NM_206965.2(FTCD):c.1443+9del rs372045405
NM_206965.2(FTCD):c.367+16del
NM_206965.2(FTCD):c.367+16dup rs746412155
NM_206965.2(FTCD):c.368-17G>A rs61688555
NM_206965.2(FTCD):c.378C>T (p.Tyr126=) rs374724805

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