ClinVar Miner

List of variants studied for Hyperphosphatasia with intellectual disability syndrome 2 by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032634.4(PIGO):c.163C>T (p.Gln55Ter)	rs1829625950	0.00001
NM_032634.4(PIGO):c.2825A>C (p.Asn942Thr)	rs1829367042

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