ClinVar Miner

List of variants reported as uncertain significance for hyperphosphatasia with intellectual disability syndrome 3 by Mendelics

Included ClinVar conditions (1):

Hyperphosphatasia with intellectual disability syndrome 3

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014489.4(PGAP2):c.391dup (p.Glu131fs)	rs1590414565
NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly)	rs533117826
NM_014489.4(PGAP2):c.395T>G (p.Val132Gly)	rs551147697

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