ClinVar Miner

List of variants studied for Hyperphosphatasia with intellectual disability syndrome 2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_032634.4(PIGO):c.95G>A (p.Arg32His) rs550039576 0.00001
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288

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