ClinVar Miner

List of variants reported as uncertain significance for Hyperphosphatasemia with bone disease

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002546.3(TNFRSF11B):c.-284C>T rs11575929 0.00457
NM_002546.4(TNFRSF11B):c.*67C>T rs11573944 0.00342
NM_002546.3(TNFRSF11B):c.-257G>T rs368831724 0.00255
NM_002546.4(TNFRSF11B):c.*682T>C rs189721016 0.00227
NM_002546.4(TNFRSF11B):c.*463T>A rs574050965 0.00111
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) rs144654126 0.00086
NM_002546.4(TNFRSF11B):c.*609G>A rs529941362 0.00050
NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr) rs201393730 0.00036
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) rs4876870 0.00022
NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=) rs143414212 0.00021
NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn) rs150777320 0.00014
NM_002546.4(TNFRSF11B):c.256G>A (p.Val86Met) rs371566584 0.00012
NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His) rs200629343 0.00009
NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val) rs373848556 0.00009
NM_002546.3(TNFRSF11B):c.-311G>T rs779000439 0.00007
NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile) rs369646136 0.00007
NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=) rs376708982 0.00007
NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His) rs374594601 0.00006
NM_002546.4(TNFRSF11B):c.*349T>A rs888097904 0.00005
NM_002546.4(TNFRSF11B):c.*213C>T rs569762226 0.00004
NM_002546.4(TNFRSF11B):c.-10G>A rs752426445 0.00004
NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His) rs375274060 0.00004
NM_002546.4(TNFRSF11B):c.400+5G>A rs372860364 0.00003
NM_002546.4(TNFRSF11B):c.400+15G>A rs757467378 0.00002
NM_002546.3(TNFRSF11B):c.-191C>G rs886062648 0.00001
NM_002546.3(TNFRSF11B):c.-99G>A rs886062647 0.00001
NM_002546.4(TNFRSF11B):c.*487T>C rs1421622252 0.00001
NM_002546.4(TNFRSF11B):c.*505A>G rs1812213517 0.00001
NM_002546.4(TNFRSF11B):c.*799G>A rs1397220907 0.00001
NM_002546.4(TNFRSF11B):c.1026G>C (p.Leu342Phe) rs754991346 0.00001
NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met) rs767927201 0.00001
NM_002546.3(TNFRSF11B):c.-204C>T rs570347828
NM_002546.3(TNFRSF11B):c.-215C>T rs886062649
NM_002546.4(TNFRSF11B):c.*166C>G rs1812218708
NM_002546.4(TNFRSF11B):c.*207C>G rs886062646
NM_002546.4(TNFRSF11B):c.*412A>G rs1379870216
NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser) rs1812353362
NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys) rs150457771
NM_002546.4(TNFRSF11B):c.783C>A (p.Asn261Lys)
NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu) rs140782326
NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro) rs1586952570
NM_002546.4(TNFRSF11B):c.97G>A (p.Glu33Lys) rs202090603

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.