ClinVar Miner

List of variants reported for Cohen syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg) rs1587912461

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