ClinVar Miner

List of variants studied for Coffin-Siris syndrome 7 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006268.5(DPF2):c.1067G>C (p.Cys356Ser) rs2495413705
NM_006268.5(DPF2):c.733C>G (p.Gln245Glu) rs755112635
NM_006268.5(DPF2):c.884G>A (p.Cys295Tyr)

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