List of variants reported as pathogenic for Cohen syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.6657+1G>A	rs180177366	0.00010
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)	rs747217399	0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)	rs180177356	0.00001
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)	rs1357171752
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)	rs1554948192
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)	rs797046098

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