List of variants reported as likely pathogenic for Cohen syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	rs144539572	0.00008
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)	rs386834067
NM_152564.5(VPS13B):c.3083-1G>A	rs1563726973
NM_152564.5(VPS13B):c.3870+1G>T	rs764225649
NM_152564.5(VPS13B):c.7247+2T>C	rs1563908020

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