ClinVar Miner

List of variants in gene CUBN reported as pathogenic

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Total variants: 16
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HGVS dbSNP
CUBN, IVS6, C-G
NM_001081.3(CUBN):c.1308_1311del (p.Glu435_Cys436insTer) rs1564516701
NM_001081.3(CUBN):c.1506G>A (p.Trp502Ter) rs145818316
NM_001081.3(CUBN):c.1865del (p.Thr622fs) rs386833771
NM_001081.3(CUBN):c.2496dup (p.Pro833fs) rs1554816715
NM_001081.3(CUBN):c.3329+1G>T rs1205598688
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251

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