ClinVar Miner

List of variants studied for Autosomal dominant Kenny-Caffey syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs) rs533676902 0.00478
NM_001312909.2(FAM111A):c.1408C>T (p.His470Tyr)
NM_001312909.2(FAM111A):c.1451C>A (p.Ala484Asp)
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011

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