ClinVar Miner

List of variants in gene CUBN reported as likely pathogenic for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
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.348+2T>C rs146047781 0.00012
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.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.1865del (p.Thr622fs) rs386833771 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787 0.00001
NM_001081.4(CUBN):c.4856-1del rs750520309 0.00001
NM_001081.4(CUBN):c.10033-1G>A
NM_001081.4(CUBN):c.1015+1G>A
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.10528+1G>A
NM_001081.4(CUBN):c.1230+1G>A rs386833766
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.4(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.4(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.4(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.4(CUBN):c.252+1G>A rs386833776
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.2792-1G>T rs2131845016
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.4(CUBN):c.3008+2_3008+5del rs2131844654
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.4(CUBN):c.3330-439C>G rs386833782
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.4(CUBN):c.3829+1G>A
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.4(CUBN):c.4350+2T>C rs371489485
NM_001081.4(CUBN):c.4351-1G>C
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.489G>A (p.Lys163=) rs386833789
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.4(CUBN):c.4969+2T>G
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.4(CUBN):c.5549-2A>C rs1564435513
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001081.4(CUBN):c.5927-1G>A
NM_001081.4(CUBN):c.6822-1G>A
NM_001081.4(CUBN):c.7001-2A>T rs2131458620
NM_001081.4(CUBN):c.7001-2del rs756427983
NM_001081.4(CUBN):c.7534-1G>T rs1588639188
NM_001081.4(CUBN):c.8063-1G>A
NM_001081.4(CUBN):c.8755+2T>C
NM_001081.4(CUBN):c.884-1G>A
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.4(CUBN):c.9237-1G>C
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463

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