ClinVar Miner

List of variants reported as likely pathogenic for Cohen syndrome by Broad Institute Rare Disease Group, Broad Institute

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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.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter) rs371364257 0.00001
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs) rs1354326532

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