ClinVar Miner

List of variants reported as likely pathogenic for Hyperphosphatasia-intellectual disability syndrome

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Total variants: 4
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HGVS dbSNP
NM_001201484.1(PIGO):c.1485dupT
NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) rs139073416
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) rs140470862

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