ClinVar Miner

List of variants studied for bone remodeling disease by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg) rs121918237 0.00007
NM_001177316.2(SLC34A3):c.1335+2T>A rs752222200 0.00002
NM_000067.3(CA2):c.275A>C (p.Gln92Pro) rs1304160279
NM_000088.4(COL1A1):c.1614+1G>A rs72648357
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_005032.7(PLS3):c.1512-1G>T rs2147590595

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.