ClinVar Miner

List of variants reported as pathogenic for hyperphosphatasia-intellectual disability syndrome by Department of Clinical Genetics, Medical University of Lodz

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: 1

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HGVS	dbSNP	gnomAD frequency
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	rs139073416	0.00014

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