ClinVar Miner

List of variants studied for Tumoral calcinosis, hyperphosphatemic, familial, 3 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004795.4(KL):c.87C>T (p.Arg29=) rs528826951 0.00634
NM_004795.4(KL):c.91C>T (p.Leu31=) rs540806300 0.00387
NM_004795.4(KL):c.1371A>C (p.Ala457=) rs150268586 0.00192
NM_004795.4(KL):c.2532G>A (p.Gln844=) rs149775738 0.00111
NM_004795.4(KL):c.2688C>T (p.Asn896=) rs145682430 0.00067
NM_004795.4(KL):c.486G>A (p.Ala162=) rs371131557 0.00038
NM_004795.4(KL):c.537G>C (p.Arg179=) rs769292412 0.00023
NM_004795.4(KL):c.1788C>A (p.Ser596=) rs141133607 0.00021
NM_004795.4(KL):c.1764G>T (p.Met588Ile) rs543489938 0.00014
NM_004795.4(KL):c.738C>T (p.His246=) rs756551415 0.00014
NM_004795.4(KL):c.2682C>T (p.Tyr894=) rs144132270 0.00013
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) rs200940225 0.00012
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.2502C>T (p.Thr834=) rs147748913 0.00011
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) rs146275953 0.00007
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_004795.4(KL):c.2057C>T (p.Thr686Met) rs141695559 0.00004
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) rs199812311 0.00004
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) rs749356037 0.00004
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_004795.4(KL):c.1005T>C (p.Gly335=) rs749183356 0.00003
NM_004795.4(KL):c.292C>T (p.Leu98=) rs762177521 0.00003
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2811C>T (p.Pro937=) rs751273061 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_004795.4(KL):c.1331-3C>A rs748430461 0.00001
NM_004795.4(KL):c.1811C>A (p.Pro604His) rs751229348 0.00001
NM_004795.4(KL):c.254A>G (p.Lys85Arg) rs1190809246 0.00001
NM_004795.4(KL):c.257G>A (p.Gly86Asp) rs1477759912 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_004795.4(KL):c.535C>T (p.Arg179Trp) rs746435085 0.00001
NM_004795.4(KL):c.944A>G (p.Glu315Gly) rs759972130 0.00001
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) rs777919048
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.4C>T (p.Pro2Ser) rs1425467064
NM_004795.4(KL):c.721dup (p.Tyr241fs) rs2138184030
NM_004795.4(KL):c.875G>T (p.Gly292Val)

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.