ClinVar Miner

List of variants in gene ANKH studied for arthritic joint disease

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07896
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06312
NM_054027.6(ANKH):c.-4G>A rs78431233 0.05430
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955 0.00943
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00903
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00755
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00728
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00329
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_054027.6(ANKH):c.-252C>T rs530246274 0.00168
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643 0.00078
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394 0.00074
NM_054027.6(ANKH):c.915+14C>T rs140045509 0.00032
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00030
NM_054027.6(ANKH):c.1021G>A (p.Val341Met) rs199664007 0.00029
NM_054027.6(ANKH):c.314-13C>T rs201856062 0.00016
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340 0.00014
NM_054027.6(ANKH):c.1012-11T>G rs576472902 0.00005
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199 0.00004
NM_054027.6(ANKH):c.313+12G>A rs769050375 0.00004
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 0.00002
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_054027.6(ANKH):c.-11C>T rs2126640512
NM_054027.6(ANKH):c.-291CCG[5] rs531421951
NM_054027.6(ANKH):c.-291CCG[6] rs531421951
NM_054027.6(ANKH):c.-291CCG[8] rs531421951
NM_054027.6(ANKH):c.-291CCG[9] rs531421951
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) rs121908405
NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) rs121908410
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser) rs121908410
NM_054027.6(ANKH):c.143T>C (p.Met48Thr) rs121908407
NM_054027.6(ANKH):c.14C>T (p.Pro5Leu) rs121908409
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) rs1738522430
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689
NM_054027.6(ANKH):c.974A>G (p.Lys325Arg)

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.