List of variants reported as pathogenic for Cohen syndrome by Counsyl

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)	rs386834099	0.00001
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter)	rs120074150	0.00001
NM_152564.5(VPS13B):c.4745+2T>C	rs386834091
NM_152564.5(VPS13B):c.9331-1G>T	rs386834119

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