ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 357
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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_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_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57919
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50897
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.33593
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19092
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17332
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
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_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_001698.3(AUH):c.483A>C (p.Ile161=) rs7874056 0.11827
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_001698.3(AUH):c.331-6G>A rs10991898 0.08502
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_001081.4(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462 0.07196
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=) rs2271468 0.07161
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_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_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.02872
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_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02019
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001698.3(AUH):c.*107A>G rs75505223 0.01845
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_001081.4(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534 0.01626
NM_001081.4(CUBN):c.*305T>G rs143326344 0.01612
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_001081.4(CUBN):c.*151G>A rs76742384 0.01235
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_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_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_001698.3(AUH):c.77G>A (p.Cys26Tyr) rs74484860 0.00593
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu) rs117128556 0.00569
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_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00531
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_001081.4(CUBN):c.2756A>G (p.His919Arg) rs148869805 0.00464
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_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser) rs146593010 0.00386
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser) rs142581908 0.00371
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_001081.4(CUBN):c.*769G>A rs149618660 0.00335
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_001698.3(AUH):c.*200A>G rs113687423 0.00297
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys) rs138545198 0.00253
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_001081.4(CUBN):c.1530+12A>C rs138936163 0.00212
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn) rs147449194 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_001081.4(CUBN):c.10119C>A (p.Val3373=) rs139596037 0.00168
NM_001081.4(CUBN):c.*436C>A rs574512019 0.00159
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_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser) rs117620008 0.00133
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001698.3(AUH):c.*29G>A rs200499826 0.00116
NM_001081.4(CUBN):c.5967G>C (p.Val1989=) rs139153235 0.00111
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=) rs201001705 0.00105
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=) rs147730705 0.00091
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=) rs140524729 0.00091
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=) rs143531829 0.00090
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser) rs141164907 0.00089
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_001081.4(CUBN):c.7210+9A>G rs117711403 0.00081
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312 0.00070
NM_001081.4(CUBN):c.*782G>A rs570478432 0.00067
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422 0.00064
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_001081.4(CUBN):c.*734A>G rs751683958 0.00046
NM_001698.3(AUH):c.*432C>T rs746233646 0.00044
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_001081.4(CUBN):c.671G>A (p.Arg224His) rs139891639 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala) rs150392211 0.00034
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile) rs150488625 0.00034
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln) rs149622438 0.00033
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys) rs150014503 0.00031
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu) rs144626884 0.00031
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser) rs150985118 0.00031
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser) rs74844886 0.00029
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg) rs146035059 0.00029
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_001081.4(CUBN):c.9664-9T>G rs145383974 0.00028
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu) rs191787640 0.00027
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu) rs200537125 0.00026
NM_001081.4(CUBN):c.2932C>A (p.His978Asn) rs369981313 0.00026
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=) rs150510291 0.00026
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg) rs1801237 0.00022
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001081.4(CUBN):c.10293C>T (p.His3431=) rs1266678482 0.00019
NM_001081.4(CUBN):c.388-3C>T rs367626184 0.00019
NM_001081.4(CUBN):c.5926+5G>A rs143301088 0.00019
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222 0.00019
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=) rs139990077 0.00019
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=) rs200457480 0.00019
NM_001081.4(CUBN):c.349-9T>C rs375431948 0.00018
NM_001081.4(CUBN):c.*940A>G rs560609264 0.00017
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser) rs370803308 0.00017
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=) rs376536525 0.00017
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys) rs139848689 0.00016
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=) rs200115233 0.00016
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu) rs140566726 0.00015
NM_001698.3(AUH):c.678C>T (p.Arg226=) rs143768042 0.00015
NM_001081.4(CUBN):c.*266C>T rs374059721 0.00014
NM_001081.4(CUBN):c.*560C>T rs45565931 0.00014
NM_001081.4(CUBN):c.-35G>C rs376502722 0.00014
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met) rs141420691 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu) rs143741363 0.00014
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr) rs148491916 0.00014
NM_001081.4(CUBN):c.1236T>C (p.Thr412=) rs201404467 0.00012
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr) rs139051724 0.00011
NM_001081.4(CUBN):c.1926C>T (p.Asp642=) rs201938886 0.00011
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala) rs748823977 0.00011
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile) rs143291127 0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His) rs184746130 0.00011
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=) rs200124646 0.00011
NM_001081.4(CUBN):c.*786T>C rs886046853 0.00010
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.5323C>T (p.Arg1775Trp) rs1276708 0.00010
NM_001698.3(AUH):c.*218_*219del rs1057515675 0.00010
NM_001698.3(AUH):c.679G>A (p.Ala227Thr) rs141700491 0.00010
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe) rs754645310 0.00009
NM_001081.4(CUBN):c.1111+5T>C rs199662739 0.00009
NM_001081.4(CUBN):c.2483G>A (p.Arg828His) rs199527884 0.00009
NM_001081.4(CUBN):c.536G>T (p.Gly179Val) rs370373276 0.00009
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=) rs181991723 0.00009
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser) rs766855509 0.00009
NM_001698.3(AUH):c.*237G>A rs933932318 0.00009
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser) rs200330356 0.00008
NM_001081.4(CUBN):c.2446+11A>G rs372125740 0.00008
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=) rs200977290 0.00008
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=) rs144942741 0.00008
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=) rs147772422 0.00007
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln) rs749462295 0.00007
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=) rs138758085 0.00007
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=) rs377258631 0.00007
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys) rs148348845 0.00007
NM_001081.4(CUBN):c.*298G>A rs529415832 0.00006
NM_001081.4(CUBN):c.*416G>A rs886046856 0.00006
NM_001081.4(CUBN):c.165G>A (p.Thr55=) rs370127775 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001081.4(CUBN):c.2610A>G (p.Glu870=) rs143471343 0.00006
NM_001081.4(CUBN):c.348+10A>G rs373954000 0.00006
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val) rs200593316 0.00006
NM_001081.4(CUBN):c.735C>T (p.Cys245=) rs766772944 0.00006
NM_001081.4(CUBN):c.879A>G (p.Pro293=) rs142466038 0.00006
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn) rs202189846 0.00006
NM_001698.3(AUH):c.1004G>A (p.Arg335His) rs529693736 0.00006
NM_001081.4(CUBN):c.*195T>C rs886046859 0.00005
NM_001081.4(CUBN):c.*470T>C rs886046855 0.00005
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val) rs767333853 0.00005
NM_001081.4(CUBN):c.1230C>T (p.Ile410=) rs144627803 0.00005
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=) rs199763912 0.00005
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe) rs201294291 0.00005
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940 0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001081.3(CUBN):c.-50G>A rs370711661 0.00004
NM_001081.4(CUBN):c.*597A>C rs569828144 0.00004
NM_001081.4(CUBN):c.10363-3A>G rs765943248 0.00004
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe) rs148313915 0.00004
NM_001081.4(CUBN):c.2013A>G (p.Pro671=) rs137892259 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn) rs150277370 0.00004
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val) rs1290241240 0.00004
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val) rs946315516 0.00004
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=) rs373804380 0.00004
NM_001081.4(CUBN):c.7001-4G>A rs886046871 0.00004
NM_001081.4(CUBN):c.8599-8C>T rs199774490 0.00004
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys) rs142519035 0.00004
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile) rs201093611 0.00004
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=) rs576867280 0.00004
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp) rs749089689 0.00004
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=) rs199499934 0.00004
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=) rs141513734 0.00004
NM_001081.4(CUBN):c.*15G>A rs751434522 0.00003
NM_001081.4(CUBN):c.*297C>T rs886046857 0.00003
NM_001081.4(CUBN):c.*373G>T rs780298022 0.00003
NM_001081.4(CUBN):c.*380T>C rs188873973 0.00003
NM_001081.4(CUBN):c.*669C>T rs992917155 0.00003
NM_001081.4(CUBN):c.*81C>A rs886046861 0.00003
NM_001081.4(CUBN):c.1653C>T (p.Ser551=) rs372499101 0.00003
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser) rs200658389 0.00003
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys) rs368224687 0.00003
NM_001081.4(CUBN):c.387+13C>T rs766779196 0.00003
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=) rs534571792 0.00003
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser) rs759351780 0.00003
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile) rs374628341 0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile) rs760990753 0.00003
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=) rs151303316 0.00003
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=) rs749545791 0.00003
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu) rs147160034 0.00003
NM_001081.4(CUBN):c.*564G>C rs184284227 0.00002
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly) rs768104200 0.00002
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala) rs886046875 0.00002
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser) rs1025505410 0.00002
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val) rs751110627 0.00002
NM_001081.4(CUBN):c.483G>A (p.Gln161=) rs371508247 0.00002
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val) rs556462218 0.00002
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=) rs576557890 0.00002
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys) rs747786939 0.00002
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=) rs200808196 0.00002
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr) rs544783535 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val) rs769894315 0.00002
NM_001081.4(CUBN):c.*203C>T rs769041830 0.00001
NM_001081.4(CUBN):c.*281A>G rs886046858 0.00001
NM_001081.4(CUBN):c.*446A>G rs1315458918 0.00001
NM_001081.4(CUBN):c.-42G>T rs751905101 0.00001
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys) rs755210947 0.00001
NM_001081.4(CUBN):c.10181-14A>G rs886046864 0.00001
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly) rs760807440 0.00001
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser) rs866820343 0.00001
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg) rs770392464 0.00001
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val) rs775423928 0.00001
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys) rs760682560 0.00001
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp) rs773480436 0.00001
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=) rs138052938 0.00001
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=) rs886046874 0.00001
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr) rs768182223 0.00001
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=) rs757609735 0.00001
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His) rs376122892 0.00001
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser) rs886046870 0.00001
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile) rs757192279 0.00001
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=) rs748416223 0.00001
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met) rs535261179 0.00001
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn) rs771697506 0.00001
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys) rs373893072 0.00001
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met) rs200235278 0.00001
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys) rs562374248 0.00001
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=) rs767131065 0.00001
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe) rs1241849194 0.00001
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=) rs976401499 0.00001
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=) rs559567467 0.00001
NM_001698.3(AUH):c.84G>T (p.Ala28=) rs1057515676 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001081.4(CUBN):c.*177C>G rs886046860
NM_001081.4(CUBN):c.*267A>T rs1203238498
NM_001081.4(CUBN):c.*304G>T rs2131292535
NM_001081.4(CUBN):c.*329C>G rs376727720
NM_001081.4(CUBN):c.*329C>T rs376727720
NM_001081.4(CUBN):c.*330G>A rs181630914
NM_001081.4(CUBN):c.*330G>C rs181630914
NM_001081.4(CUBN):c.*420C>T rs182278265
NM_001081.4(CUBN):c.*453A>G rs1838716540
NM_001081.4(CUBN):c.*460C>A rs1588559715
NM_001081.4(CUBN):c.*514T>G rs886046854
NM_001081.4(CUBN):c.*794A>G rs886046852
NM_001081.4(CUBN):c.*883G>A rs886046851
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=) rs147563157
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys) rs1839164438
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu) rs886046879
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys) rs886046863
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.10728C>G (p.Asn3576Lys) rs368511477
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe) rs2131299558
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=) rs886046862
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr) rs1838734881
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr) rs564429505
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu) rs780440368
NM_001081.4(CUBN):c.1911C>T (p.Leu637=) rs41289311
NM_001081.4(CUBN):c.2110+10C>G rs752409034
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala) rs2131865310
NM_001081.4(CUBN):c.2151T>C (p.Gly717=) rs1836053318
NM_001081.4(CUBN):c.2447-15T>A rs886046877
NM_001081.4(CUBN):c.2673C>T (p.Cys891=) rs386833778
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg) rs886046876
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser) rs141740096
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp) rs189294363
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp) rs776683073
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=) rs769326338
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg) rs202053511
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His) rs1391948790
NM_001081.4(CUBN):c.489+14T>C rs886046882
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys) rs144943516
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val) rs779378713
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile) rs74116778
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.4(CUBN):c.5343-11C>T rs777975604
NM_001081.4(CUBN):c.5343-6A>G rs776579478
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met) rs886046873
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.5961A>G (p.Ala1987=) rs886046872
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys) rs141319759
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.7586G>A (p.Ser2529Asn) rs886046868
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys) rs766806038
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr) rs886046867
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys) rs2131420801
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn) rs886046865
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu) rs2131420669
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile) rs886046881
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg) rs544783535
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala) rs1408193576
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala) rs886046880
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln) rs1432636083
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His) rs1839305562
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.3(AUH):c.*175G>A rs1826691653
NM_001698.3(AUH):c.*259_*262del rs377176126
NM_001698.3(AUH):c.*60G>A rs1564001076
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210

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