ClinVar Miner

List of variants reported as uncertain significance for hyperphosphatasia with intellectual disability syndrome 2 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):

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_032634.4(PIGO):c.2705C>G (p.Thr902Ser)	rs372802683	0.00016
NM_032634.4(PIGO):c.2388G>A (p.Val796=)	rs1563995829
NM_032634.4(PIGO):c.3194G>C (p.Gly1065Ala)	rs1563992617

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