ClinVar Miner

List of variants reported as likely benign for autosomal recessive hypophosphatemic rickets

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys) rs28933977 0.02826
NM_006208.3(ENPP1):c.-10C>T rs750410843 0.02463
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys) rs115371819 0.01496
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val) rs79079368 0.01455
NM_006208.3(ENPP1):c.*2076C>T rs117531639 0.01090
NM_006208.3(ENPP1):c.*1122A>G rs148507889 0.00539
NM_006208.3(ENPP1):c.*3176T>A rs114333444 0.00525
NM_006208.3(ENPP1):c.*1038T>A rs79214335 0.00496
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) rs8192683 0.00299
NM_004407.4(DMP1):c.639G>A (p.Glu213=) rs116732769 0.00193
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_006208.3(ENPP1):c.*3528C>T rs557822175 0.00161
NM_006208.3(ENPP1):c.*1307T>G rs189263683 0.00117
NM_006208.3(ENPP1):c.*4015G>A rs531152298 0.00116
NM_004407.4(DMP1):c.600G>A (p.Gly200=) rs34682707 0.00111
NM_006208.3(ENPP1):c.*804A>G rs114078048 0.00098
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro) rs147552663 0.00080
NM_006208.3(ENPP1):c.*2698G>A rs146550172 0.00023
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn) rs200239821 0.00021
NM_006208.3(ENPP1):c.750G>A (p.Pro250=) rs368742582 0.00009
NM_006208.3(ENPP1):c.2445-5T>C rs369942606 0.00006
NM_006208.3(ENPP1):c.1274-5C>T rs751500820 0.00002
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006208.3(ENPP1):c.2311+8A>G rs760047831 0.00001
NM_006208.3(ENPP1):c.795+12A>G rs1781980876 0.00001
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_006208.3(ENPP1):c.*150G>A rs571779819
NM_006208.3(ENPP1):c.1437+9_1437+12del rs376640801
NM_006208.3(ENPP1):c.313+8_313+9dup rs377330284
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGTGT rs879243445

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.