ClinVar Miner

List of variants reported as benign for hereditary hypophosphatemic rickets with hypercalciuria by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):

Autosomal recessive hypophosphatemic bone disease

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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_001177316.2(SLC34A3):c.1795T>C (p.Leu599=)	rs74842953	0.03237
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=)	rs34796681	0.00467
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)	rs34664302

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