List of variants reported as likely pathogenic for Cohen syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)	rs146960401	0.00006
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)	rs371364257	0.00004
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)	rs386834086	0.00001
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)	rs1354326532

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