List of variants in gene NBEAL2 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T	rs11928558	0.94785
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=)	rs2305634	0.48105
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=)	rs2305635	0.34360
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe)	rs2305637	0.13655
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met)	rs202071400	0.00133
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=)	rs371768924	0.00053
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly)	rs11720139
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=)	rs1079276

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