ClinVar Miner

List of variants reported as likely pathogenic for hereditary hypophosphatemic rickets with hypercalciuria by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (1):

Autosomal recessive hypophosphatemic bone disease

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_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile)	rs1060499697
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter)	rs777986863
NM_001177316.2(SLC34A3):c.560+27_561-38del	rs746082077

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