ClinVar Miner

List of variants reported as likely pathogenic for hyperphosphatasia-intellectual disability syndrome by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (9):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)	rs202146344	0.00017
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)	rs753385776
NM_033419.5(PGAP3):c.181+1G>T

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