ClinVar Miner

List of variants reported as pathogenic for Snijders Blok-Campeau syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)	rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)	rs1567861571

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