ClinVar Miner

List of variants reported as benign for hereditary anemia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 959
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005050.4(ABCD4):c.1753-46A>G rs929449 0.99998
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_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
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_000617.3(SLC11A2):c.*1031G>A rs150909 0.90829
NM_000617.3(SLC11A2):c.1576-14A>G rs161044 0.90828
NM_000617.3(SLC11A2):c.-110G>T rs6580779 0.90822
NM_000617.3(SLC11A2):c.35-498A>C rs445520 0.90819
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87635
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
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_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
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_181697.3(PRDX1):c.107-33A>G rs2356559 0.73044
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser) rs1801222 0.72079
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_001374504.1(TMPRSS6):c.836+23A>G rs2235326 0.68194
NM_015702.3(MMADHC):c.479-22G>C rs12232959 0.66236
NM_000355.3(TCN2):c.-181A>G rs2240433 0.64970
NM_001374504.1(TMPRSS6):c.2180T>C (p.Val727Ala) rs855791 0.64686
NM_206965.2(FTCD):c.*108G>A rs12774 0.63657
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.754-31T>C rs2267163 0.63034
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_001374504.1(TMPRSS6):c.1536C>T (p.Asp512=) rs4820268 0.59140
NM_001374504.1(TMPRSS6):c.1441+46C>T rs2072860 0.59102
NM_080669.6(SLC46A1):c.*3947G>A rs8081240 0.59034
NM_080669.6(SLC46A1):c.*1407C>T rs2239908 0.58189
NM_001063.4(TF):c.-2A>G rs1130459 0.57926
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NC_000003.12:g.124730444A>G rs1139538 0.54345
NC_000003.12:g.124730362A>G rs2279198 0.54337
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_080669.6(SLC46A1):c.*928A>G rs2239907 0.53216
NM_000617.3(SLC11A2):c.*1876T>C rs149411 0.53019
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
NM_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_000617.3(SLC11A2):c.34+11G>A rs427020 0.46181
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NC_000003.12:g.124730405T>C rs2279199 0.44281
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_000254.3(MTR):c.2474-18T>A rs10925256 0.42308
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_001374504.1(TMPRSS6):c.2190C>T (p.Tyr730=) rs2235321 0.40210
NM_001374504.1(TMPRSS6):c.730A>G (p.Lys244Glu) rs2235324 0.39823
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021 0.35441
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_000096.4(CP):c.2662-12T>C rs16861582 0.33387
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000096.4(CP):c.2286-15del rs143522213 0.30978
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr) rs4148077 0.30526
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_030943.4(AMN):c.1170-37C>G rs148815688 0.29891
NM_005050.4(ABCD4):c.981C>A (p.Leu327=) rs4148078 0.29827
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_206965.2(FTCD):c.54+12G>A rs2277820 0.27049
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649 0.26591
NM_000373.4(UMPS):c.*1211C>A rs11706118 0.26274
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769 0.26134
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_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_000096.4(CP):c.*769G>A rs1053669 0.19723
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
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_001374504.1(TMPRSS6):c.72G>A (p.Pro24=) rs11704654 0.17025
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_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_000617.3(SLC11A2):c.*390G>A rs224446 0.16154
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15769
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000617.3(SLC11A2):c.*358A>G rs2285230 0.14298
NM_000617.3(SLC11A2):c.1254T>C (p.Ile418=) rs1048230 0.14293
NM_000617.3(SLC11A2):c.*1273G>A rs11169654 0.14282
NM_000617.3(SLC11A2):c.607+12G>A rs224454 0.14139
NM_000355.4(TCN2):c.*127C>T rs12160073 0.13925
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) rs9977394 0.13855
NM_000355.4(TCN2):c.*82C>T rs12169610 0.13762
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13702
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13460
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.13166
NM_000096.4(CP):c.1632= (p.Glu544=) rs701753 0.13148
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12797
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_080669.6(SLC46A1):c.*2853G>A rs739439 0.12712
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12516
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_000355.4(TCN2):c.941-21G>A rs2283873 0.12200
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852 0.10437
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg) rs35211634 0.09973
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_001374504.1(TMPRSS6):c.1227C>T (p.Tyr409=) rs881144 0.08889
NM_000096.4(CP):c.394+20C>T rs17847023 0.08668
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_001063.3(TF):c.-84G>T rs8177186 0.07960
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_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_001849.4(COL6A2):c.*158C>T rs11554666 0.06989
NM_005050.4(ABCD4):c.1560-12A>C rs74061802 0.06985
NM_005050.4(ABCD4):c.668+7C>T rs61757464 0.06982
NM_005050.4(ABCD4):c.1636+10C>T rs74061801 0.06981
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=) rs57773157 0.06977
NM_005050.4(ABCD4):c.492C>G (p.Leu164=) rs36031534 0.06974
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=) rs11845976 0.06972
NM_005050.4(ABCD4):c.815-13G>C rs74063815 0.06964
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=) rs1052000 0.06963
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_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
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_001063.4(TF):c.804T>C (p.His268=) rs8177232 0.05865
NM_005142.3(CBLIF):c.246C>T (p.Ser82=) rs35792306 0.05846
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_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_000096.4(CP):c.782-14C>T rs34067682 0.05131
NM_000617.3(SLC11A2):c.*1215A>C rs17125172 0.05066
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_001081.4(CUBN):c.2792-18T>A rs10904871 0.05019
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04529
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_000096.4(CP):c.1950A>C (p.Gly650=) rs1053709 0.04222
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03753
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_080669.6(SLC46A1):c.*3266G>A rs73273104 0.03547
NM_206965.2(FTCD):c.1050C>G (p.Arg350=) rs138803850 0.03521
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_000096.4(CP):c.2991T>C (p.His997=) rs34394958 0.03057
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_000096.4(CP):c.2554+17G>A rs35593818 0.02896
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
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_005142.3(CBLIF):c.764A>G (p.Asn255Ser) rs35867471 0.02593
NM_206965.2(FTCD):c.452A>T (p.Lys151Met) rs116089237 0.02538
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
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_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458 0.02154
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
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_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01762
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
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_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_000373.4(UMPS):c.*3414A>G rs115977637 0.01658
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
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_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_000096.4(CP):c.1099C>T (p.Arg367Cys) rs34624984 0.01447
NM_000096.4(CP):c.1209-15T>A rs35465173 0.01446
NM_001081.4(CUBN):c.*93C>A rs111644764 0.01367
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val) rs111265129 0.01345
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01306
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_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286 0.01173
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_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_080669.6(SLC46A1):c.*729G>A rs41297903 0.01106
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226 0.01102
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_000617.3(SLC11A2):c.34+6T>G rs17216107 0.01065
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987 0.01050
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_000096.4(CP):c.2286-12T>G rs183671127 0.01016
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.01006
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_005142.3(CBLIF):c.990C>T (p.Asn330=) rs2867802 0.00921
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_006996.3(SLC19A2):c.*1421A>G rs74121673 0.00885
NM_000254.3(MTR):c.2474-19T>A rs11809449 0.00849
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr) rs150884181 0.00842
NM_005050.4(ABCD4):c.1028+6G>T rs115783644 0.00836
NM_005050.4(ABCD4):c.669-13T>G rs144451801 0.00836
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.00833
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752 0.00808
NM_000096.4(CP):c.3182-4A>G rs34272112 0.00805
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_005142.3(CBLIF):c.193G>A (p.Gly65Arg) rs11825834 0.00763
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_000617.3(SLC11A2):c.*1261G>A rs60725885 0.00753
NM_000617.3(SLC11A2):c.*872A>C rs73297974 0.00752
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00727
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro) rs139863822 0.00711
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
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_000355.3(TCN2):c.-244C>T rs143029449 0.00657
NM_000617.3(SLC11A2):c.-78G>A rs2301528 0.00652
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_000254.3(MTR):c.3599-11G>A rs76731959 0.00621
NM_001081.4(CUBN):c.963C>T (p.Pro321=) rs150309054 0.00617
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_206965.2(FTCD):c.919C>T (p.Leu307=) rs141103624 0.00600
NM_000096.4(CP):c.669G>C (p.Val223=) rs35438054 0.00599
NM_206965.2(FTCD):c.239-13C>T rs185291133 0.00599
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn) rs115964827 0.00580
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
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_000096.4(CP):c.*474T>C rs34936395 0.00559
NM_005050.4(ABCD4):c.543-14T>C rs79311122 0.00556
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
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_000617.3(SLC11A2):c.*1486G>T rs116731209 0.00538
NM_000617.3(SLC11A2):c.*789G>A rs79206015 0.00538
NM_000617.3(SLC11A2):c.184T>C (p.Tyr62His) rs17222470 0.00534
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_206965.2(FTCD):c.457-16G>A rs192895127 0.00528
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
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_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
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_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_080669.6(SLC46A1):c.*2248T>C rs8082600 0.00495
NM_000096.4(CP):c.1275T>C (p.Tyr425=) rs34237139 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_000096.4(CP):c.1349-13T>C rs17847017 0.00469
NM_000096.4(CP):c.1348+9T>C rs35272481 0.00465
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
NM_080669.6(SLC46A1):c.*692A>T rs112801276 0.00456
NM_000617.3(SLC11A2):c.625G>A (p.Ala209Thr) rs115874705 0.00453
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_006996.3(SLC19A2):c.-23G>C rs181612338 0.00441
NM_000096.4(CP):c.2525A>G (p.Glu842Gly) rs149858116 0.00437
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670 0.00435
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_030943.4(AMN):c.829A>G (p.Thr277Ala) rs146499374 0.00428
NM_018368.4(LMBRD1):c.1509+20G>C rs116095397 0.00424
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
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_000254.3(MTR):c.2474-17A>T rs571901048 0.00401
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000254.3(MTR):c.669+20C>T rs200305844 0.00392
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=) rs35522023 0.00378
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_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_206965.2(FTCD):c.407G>A (p.Arg136Gln) rs149596485 0.00366
NM_018368.4(LMBRD1):c.562+18T>A rs183663902 0.00364
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=) rs141937843 0.00363
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497 0.00362
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_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_030943.4(AMN):c.208-10T>C rs115851517 0.00345
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_000254.3(MTR):c.1076-8C>T rs115186224 0.00321
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
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_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_001063.4(TF):c.216+14G>C rs114449208 0.00299
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682 0.00297
NM_030943.4(AMN):c.1170-6C>T rs386834164 0.00296
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_000096.4(CP):c.2878+12T>G rs35848147 0.00288
NM_001081.4(CUBN):c.8411-14T>C rs141775273 0.00287
NM_000373.4(UMPS):c.*3020G>A rs185476268 0.00281
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_030943.4(AMN):c.843+12G>A rs140902778 0.00278
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_000096.4(CP):c.394+19G>A rs188121726 0.00272
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_000254.3(MTR):c.1485G>A (p.Met495Ile) rs2229275 0.00265
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_000254.3(MTR):c.2349C>T (p.Asp783=) rs150734119 0.00261
NM_000254.3(MTR):c.2473+8G>T rs144061765 0.00260
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863 0.00255
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_001063.4(TF):c.635+13T>A rs41298993 0.00246
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00224
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu) rs147752521 0.00217
NM_030943.4(AMN):c.208-16C>T rs202004969 0.00214
NM_000096.4(CP):c.993T>C (p.Pro331=) rs17847025 0.00213
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_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000254.3(MTR):c.2474-18_2474-17del rs1491459998 0.00202
NM_015506.3(MMACHC):c.276+17T>A rs115028762 0.00201
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=) rs75737363 0.00192
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_000096.4(CP):c.2793A>G (p.Leu931=) rs34987997 0.00186
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=) rs80308930 0.00182
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
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_000254.3(MTR):c.685G>A (p.Val229Ile) rs61736441 0.00164
NM_000254.3(MTR):c.2474-16A>T rs539082928 0.00162
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
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_000254.3(MTR):c.764+16T>C rs138222686 0.00158
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_001081.4(CUBN):c.1417+20T>C rs181536212 0.00156
NM_000617.3(SLC11A2):c.893T>C (p.Ile298Thr) rs17216051 0.00155
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys) rs61729373 0.00152
NM_000096.4(CP):c.347C>A (p.Pro116His) rs73866999 0.00150
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_206965.2(FTCD):c.36G>A (p.Ser12=) rs150970653 0.00148
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_005142.3(CBLIF):c.872-8C>A rs200571955 0.00138
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_001081.4(CUBN):c.1947+9T>A rs376950340 0.00125
NM_001081.4(CUBN):c.2792-6C>G rs185269080 0.00125
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
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_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738 0.00108
NM_080669.6(SLC46A1):c.*2843G>A rs118138669 0.00108
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_000617.3(SLC11A2):c.-39+5G>C rs180796770 0.00105
NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala) rs188342700 0.00104
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_206965.2(FTCD):c.457-14G>A rs201867413 0.00093
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
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_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 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_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_206965.2(FTCD):c.239-16C>T rs376733737 0.00084
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654 0.00083
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile) rs144070828 0.00082
NM_001081.4(CUBN):c.4671T>G (p.Leu1557=) rs151197305 0.00078
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) rs139369078 0.00077
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) rs76418646 0.00075
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_000355.4(TCN2):c.427+17C>T rs187924928 0.00066
NM_000096.4(CP):c.2878+14T>C rs75520320 0.00063
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_206965.2(FTCD):c.192C>T (p.Asn64=) rs148787454 0.00059
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_000355.4(TCN2):c.90G>A (p.Leu30=) rs576996415 0.00056
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_030943.4(AMN):c.63C>T (p.Ser21=) rs150802428 0.00051
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) rs376756703 0.00050
NM_080669.6(SLC46A1):c.*1774A>G rs2239909 0.00050
NM_000096.4(CP):c.2554+18G>A rs201627704 0.00046
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=) rs147742103 0.00043
NM_000254.3(MTR):c.1959A>C (p.Gln653His) rs562769000 0.00042
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=) rs142560894 0.00042
NM_000617.3(SLC11A2):c.255G>T (p.Leu85=) rs17216072 0.00041
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113 0.00041
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp) rs147795328 0.00041
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_206965.2(FTCD):c.267C>T (p.Asp89=) rs370444672 0.00039
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_030943.4(AMN):c.321T>C (p.Ser107=) rs563004567 0.00034
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
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_000096.4(CP):c.2997C>T (p.His999=) rs147475926 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) rs373690520 0.00029
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) rs781955031 0.00028
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_000096.4(CP):c.981G>A (p.Val327=) rs144467178 0.00026
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_005050.4(ABCD4):c.669-11_669-8del rs373949463 0.00026
NM_080669.6(SLC46A1):c.*671C>T rs41297123 0.00026
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_018368.4(LMBRD1):c.1510-17C>T rs149064101 0.00022
NM_206965.2(FTCD):c.1261-13C>G rs372484759 0.00022
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_001081.4(CUBN):c.10181-16C>A rs190546478 0.00017
NM_000096.4(CP):c.457G>A (p.Glu153Lys) rs138646392 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_206965.2(FTCD):c.368-15C>T rs368792878 0.00016
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_005334.3(HCFC1):c.6069-5C>T rs782321258 0.00014
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) rs370113081 0.00012
NM_000096.4(CP):c.3006C>T (p.Ser1002=) rs199877380 0.00011
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_005142.3(CBLIF):c.750G>A (p.Thr250=) rs377432418 0.00011
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 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_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_005050.4(ABCD4):c.756G>A (p.Arg252=) rs149632647 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_000254.3(MTR):c.3007+20C>A rs149877608 0.00009
NM_000355.4(TCN2):c.427+18G>A rs373712632 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) rs782684668 0.00008
NM_018368.4(LMBRD1):c.1188+17del rs538437940 0.00008
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) rs560615373 0.00007
NM_005050.4(ABCD4):c.1752+5C>T rs370270229 0.00007
NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile) rs759872025 0.00007
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) rs782754046 0.00007
NM_005334.3(HCFC1):c.2029-9C>G rs374910917 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_030943.4(AMN):c.841C>T (p.Leu281=) rs569327877 0.00007
NM_000254.3(MTR):c.1076-11C>T rs186367553 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_005334.3(HCFC1):c.1803+13C>T rs368179780 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 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_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 0.00005
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) rs782045987 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858 0.00005
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005
NM_000096.4(CP):c.2662-14T>C rs189155564 0.00004
NM_000254.3(MTR):c.2703A>G (p.Leu901=) rs780615625 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=) rs529198629 0.00004
NM_000096.4(CP):c.1038C>T (p.Ala346=) rs146895584 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5379+20G>A rs371712410 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_000254.3(MTR):c.2772C>G (p.Leu924=) rs533541925 0.00002
NM_001081.4(CUBN):c.3546G>A (p.Pro1182=) rs369417721 0.00002
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00002
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_000096.4(CP):c.2611G>A (p.Asp871Asn) rs529607771 0.00001
NM_000355.4(TCN2):c.330C>T (p.Leu110=) rs528481728 0.00001
NM_000373.4(UMPS):c.*5014C>T rs569469184 0.00001
NM_001081.4(CUBN):c.10287G>A (p.Gln3429=) rs566428134 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280 0.00001
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452 0.00001
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) rs371594842 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_000096.4(CP):c.*828dup rs35907111
NM_000096.4(CP):c.1209-11del rs748250466
NM_000096.4(CP):c.1209-11dup rs748250466
NM_000096.4(CP):c.2286-14dup rs561633350
NM_000096.4(CP):c.2286-15G>T rs34861155
NM_000096.4(CP):c.2286-15_2286-14del rs201677287
NM_000096.4(CP):c.2286-4del rs561633350
NM_000096.4(CP):c.2554+14C>G rs200965170
NM_000096.4(CP):c.2554+19dup
NM_000096.4(CP):c.694C>T (p.Leu232=)
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
NM_000254.3(MTR):c.1516-15dup
NM_000254.3(MTR):c.2044-3del
NM_000254.3(MTR):c.2197-6dup
NM_000254.3(MTR):c.2474-18del rs150727404
NM_000254.3(MTR):c.2474-4del rs546254033
NM_000254.3(MTR):c.2474-4dup rs546254033
NM_000254.3(MTR):c.2474-5_2474-4del rs546254033
NM_000254.3(MTR):c.2474-5_2474-4dup rs546254033
NM_000254.3(MTR):c.2595-3del
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
NM_000254.3(MTR):c.2676+23dup
NM_000254.3(MTR):c.2776-6dup
NM_000254.3(MTR):c.3712-5del
NM_000254.3(MTR):c.409+25dup
NM_000254.3(MTR):c.609+20dup
NM_000254.3(MTR):c.610-10del
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000254.3(MTR):c.765-13dup
NM_000254.3(MTR):c.865+18dup
NM_000254.3(MTR):c.927+14dup
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.428-10dup rs747673857
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8A>T rs7290898
NM_000355.4(TCN2):c.581-9dup rs2145544145
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
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_000617.3(SLC11A2):c.309+44A>C rs224589
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_001374504.1(TMPRSS6):c.631+46A>G rs2743824
NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del) rs201874762
NM_002454.3(MTRR):c.-26+755C>A rs326119
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.1146+10del rs750264866
NM_002454.3(MTRR):c.1147-14G>A rs9282791
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1677-10_1677-9dup
NM_002454.3(MTRR):c.1677-9del rs746262908
NM_002454.3(MTRR):c.1677-9dup rs746262908
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.283+9CT[3] rs1341998318
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln) rs147100216
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg) rs35073715
NM_005050.4(ABCD4):c.1420-11dup
NM_005050.4(ABCD4):c.1507-11G>C rs375805220
NM_005050.4(ABCD4):c.669-6G>T rs115029507
NM_005050.4(ABCD4):c.937-17C>T
NM_005142.3(CBLIF):c.371-19T>C
NM_005334.3(HCFC1):c.1084+17C>T
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1569G>A (p.Val523=)
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
NM_005334.3(HCFC1):c.2028+18C>T
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
NM_005334.3(HCFC1):c.2496+18G>A
NM_005334.3(HCFC1):c.2497-9G>T
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
NM_005334.3(HCFC1):c.2856+7C>T
NM_005334.3(HCFC1):c.2857-14G>C
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
NM_005334.3(HCFC1):c.342+11C>T
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) rs782136932
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
NM_005334.3(HCFC1):c.4334-10G>A
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
NM_005334.3(HCFC1):c.4498-7C>T
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
NM_005334.3(HCFC1):c.5260+16C>T
NM_005334.3(HCFC1):c.5261-5C>T
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
NM_005334.3(HCFC1):c.5380-20G>A
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5517+20G>C
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
NM_005334.3(HCFC1):c.5685T>C (p.Cys1895=)
NM_005334.3(HCFC1):c.5703+18del
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
NM_005334.3(HCFC1):c.6004+14G>T
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6068+20C>T
NM_005334.3(HCFC1):c.6069-20T>C
NM_005334.3(HCFC1):c.6069-8C>T
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
NM_005334.3(HCFC1):c.713-12G>A
NM_005334.3(HCFC1):c.713-18C>T
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
NM_005334.3(HCFC1):c.840C>T (p.Asp280=)
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_015506.3(MMACHC):c.429+13del
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015702.3(MMADHC):c.155-11dup rs1573878813
NM_015702.3(MMADHC):c.155-16del
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_018368.4(LMBRD1):c.1084-4del rs757172535
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
NM_018368.4(LMBRD1):c.406-16del
NM_018368.4(LMBRD1):c.562+18del
NM_018368.4(LMBRD1):c.562+18dup
NM_018368.4(LMBRD1):c.563-13del
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-3del
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_032383.5(HPS3):c.2887+19dup rs397710976
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.