ClinVar Miner

List of variants studied for Hyperphosphatasia with intellectual disability syndrome 2 by New York Genome Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)	rs147098410	0.00040
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)	rs149439295	0.00003
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val)	rs777439274	0.00001
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter)	rs746967719

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