List of variants in gene NBEAL2 reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_015175.3(NBEAL2):c.4485-1G>T	rs763842878	0.00001
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)	rs781366964
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)	rs2036418481
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter)	rs1172581672
NM_015175.3(NBEAL2):c.2650-1G>A	rs2036570687
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)	rs2036579205
NM_015175.3(NBEAL2):c.3118+2T>G	rs1349443190
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)	rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)	rs2037048154
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs)	rs1575592157
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs)	rs1575623114
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)	rs2037363765
NM_015175.3(NBEAL2):c.6920-1G>C	rs2037428827
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)	rs2037501401
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter)	rs1575629721
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)	rs2037558268

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