ClinVar Miner

List of variants studied for Cohen syndrome by GeneReviews

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs) rs180177327
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr) rs120074155
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329

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