ClinVar Miner

List of variants in gene CUBN reported as pathogenic for anemia

Included ClinVar conditions (292):
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430 0.00027
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter) rs143944436 0.00019
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter) rs145661597 0.00016
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter) rs137998687 0.00016
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251 0.00008
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177 0.00002
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) rs557208468 0.00002
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615 0.00001
NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter) rs1841554531 0.00001
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter) rs759203841 0.00001
NC_000010.10:g.(?_16961942)_(16970322_?)del
NC_000010.10:g.(?_17151619)_(17157616_?)del
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) rs147730705
NM_001081.4(CUBN):c.10311dup (p.His3438fs)
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)
NM_001081.4(CUBN):c.10557_10558del (p.Gly3520fs)
NM_001081.4(CUBN):c.1892del (p.Thr631fs) rs2131869439
NM_001081.4(CUBN):c.2191_2192del (p.Thr731fs) rs2131863686
NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter) rs776704427
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.4(CUBN):c.3138del (p.Ala1047fs)
NM_001081.4(CUBN):c.3329+1G>T rs1205598688
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu) rs2131820786
NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)
NM_001081.4(CUBN):c.382C>T (p.Gln128Ter) rs374695194
NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.424C>T (p.Gln142Ter) rs765941616
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) rs770921101
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.4(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)
NM_001081.4(CUBN):c.5856del (p.Lys1954fs)
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)
NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
NM_001081.4(CUBN):c.6297_6298insT (p.Arg2100Ter)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.4(CUBN):c.7013del (p.Gly2338fs) rs1588646655
NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter) rs2131458386
NM_001081.4(CUBN):c.7145_7146del (p.Asp2381_Phe2382insTer)
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
NM_001081.4(CUBN):c.794dup (p.Asp265fs)
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter) rs1161400848
NM_001081.4(CUBN):c.8049del (p.Lys2683fs)
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
NM_001081.4(CUBN):c.8165del (p.Pro2722fs)
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter) rs1841332247
NM_001081.4(CUBN):c.8684_8687del (p.Ser2895fs) rs2131400036
NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)
NM_001081.4(CUBN):c.9783del (p.Thr3261_Leu3262insTer)

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