ClinVar Miner

List of variants in gene CUBN reported as benign for 3-methylglutaconic aciduria

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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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.593+33dup rs11409967 0.95021
NM_001081.4(CUBN):c.123-16C>G rs2281648 0.87734
NM_001081.4(CUBN):c.2791+9C>T rs10795440 0.86232
NM_001081.4(CUBN):c.6463-22A>C rs1276713 0.83614
NM_001081.4(CUBN):c.7912+25T>C rs780807 0.76246
NM_001081.4(CUBN):c.10180+30A>G rs703062 0.74847
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 0.72697
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=) rs703064 0.70381
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr) rs1801224 0.57972
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=) rs1801234 0.50538
NM_001081.4(CUBN):c.2487G>A (p.Ser829=) rs1801225 0.34517
NM_001081.4(CUBN):c.*601A>G rs780635 0.34264
NM_001081.4(CUBN):c.939C>T (p.Asn313=) rs1801223 0.21191
NM_001081.4(CUBN):c.5343-8C>A rs2271463 0.19341
NM_001081.4(CUBN):c.6124+8C>T rs2271461 0.17660
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=) rs1801241 0.16648
NM_001081.4(CUBN):c.4970-22A>C rs74668791 0.13498
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305 0.13356
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly) rs1801240 0.12902
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe) rs62619939 0.12828
NM_001081.4(CUBN):c.*134G>A rs780636 0.12332
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=) rs1873469 0.09173
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=) rs3740165 0.08230
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val) rs1801239 0.07706
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr) rs7905349 0.07515
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.5304C>T (p.Ile1768=) rs61841454 0.05662
NM_001081.4(CUBN):c.7913-11A>G rs7088988 0.05036
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=) rs1801228 0.03502
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu) rs76788243 0.03499
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile) rs1801238 0.02483
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168 0.02405
NM_001081.4(CUBN):c.2791+14C>T rs111781659 0.02202
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg) rs12259370 0.02097
NM_001081.4(CUBN):c.2791+6A>C rs78549445 0.01999
NM_001081.4(CUBN):c.2571C>T (p.Asn857=) rs17432826 0.01782
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230 0.01655
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 0.01273
NM_001081.4(CUBN):c.*151G>A rs76742384 0.01235
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=) rs11254278 0.01067
NM_001081.4(CUBN):c.*45C>T rs7085076 0.01027
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val) rs45551835 0.00977
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=) rs114958584 0.00910
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460 0.00803
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947 0.00782
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn) rs138083522 0.00719
NM_001081.4(CUBN):c.*872T>C rs116825641 0.00690
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=) rs115303408 0.00682
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 0.00522
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284 0.00516
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427 0.00513
NM_001081.4(CUBN):c.4696-16G>T rs140260072 0.00464
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_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00382
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val) rs149507036 0.00349
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys) rs78201384 0.00208
NM_001081.4(CUBN):c.7706-4T>C rs374979108 0.00167
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389 0.00150
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_001081.4(CUBN):c.8921C>T (p.Thr2974Met) rs374477671 0.00003
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

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