ClinVar Miner

List of variants studied for Hyperphosphatasia with intellectual disability syndrome 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) rs139073416 0.00013
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) rs145160045 0.00003

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