List of variants in gene CUBN reported as likely pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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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.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.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.2949C>A (p.Tyr983Ter)	rs386833779
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)	rs386833780
NM_001081.4(CUBN):c.3330-439C>G	rs386833782
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.3999C>A (p.Cys1333Ter)	rs386833785
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)	rs386833786
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)	rs386833788
NM_001081.4(CUBN):c.489G>A (p.Lys163=)	rs386833789
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)	rs386833791

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