ClinVar Miner

List of variants reported as likely 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.3359A>T (p.Asp1120Val)	rs1970460175
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln)	rs1567863732
NM_001005273.3(CHD3):c.5092C>T (p.Arg1698Ter)

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