List of variants reported as likely pathogenic for hyperphosphatasia with intellectual disability syndrome 2

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)	rs150734953	0.00007
NM_032634.3(PIGO):c.3069+5G>A	rs368953604	0.00004
NM_032634.4(PIGO):c.1109A>G (p.Asn370Ser)	rs1214104267	0.00001
NM_032634.4(PIGO):c.2648-1G>A	rs755750516	0.00001
NM_032634.4(PIGO):c.1176_1186del (p.Glu392fs)	rs1829490529
NM_032634.4(PIGO):c.1392delinsGA (p.Ile464fs)	rs1587167234
NM_032634.4(PIGO):c.2191dup (p.Arg731fs)	rs760848629
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter)	rs746967719
NM_032634.4(PIGO):c.2825A>C (p.Asn942Thr)	rs1829367042
NM_032634.4(PIGO):c.2854+1G>A	rs1829364614
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe)	rs142164373
NM_032634.4(PIGO):c.3069+2T>C	rs1064795758
NM_032634.4(PIGO):c.355C>T (p.Arg119Trp)
NM_032634.4(PIGO):c.511_511+1delinsTT
NM_032634.4(PIGO):c.655+1G>A

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