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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001177316.2(SLC34A3):c.1795T>C (p.Leu599=)	rs74842953	0.03237
NM_001177316.2(SLC34A3):c.539G>C (p.Gly180Ala)	rs35643193	0.01167
NM_001177316.2(SLC34A3):c.625C>T (p.Leu209=)	rs34796681	0.00467
NM_001177316.2(SLC34A3):c.1140C>T (p.Leu380=)	rs113568956	0.00320
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)	rs140639805	0.00216
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)	rs138872455	0.00215
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)	rs121918239	0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)	rs148072630	0.00148
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)	rs145029982	0.00052
NM_001177316.2(SLC34A3):c.411G>A (p.Thr137=)	rs148026048	0.00018
NM_001177316.2(SLC34A3):c.195_215del (p.Arg65_Gly71del)	rs532224704
NM_001177316.2(SLC34A3):c.544C>T (p.Arg182Trp)	rs199747826
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=)	rs34664302

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.