ClinVar Miner

List of variants reported as benign for hyperphosphatasia with intellectual disability syndrome 2 by Genome-Nilou Lab

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032634.4(PIGO):c.*41T>G	rs556766	0.98454
NM_032634.4(PIGO):c.1119+7A>G	rs568300	0.52243
NM_032634.4(PIGO):c.2004G>A (p.Leu668=)	rs10814196	0.19210

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