ClinVar Miner

List of variants reported as uncertain significance for bone remodeling disease by Counsyl

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln) rs1553197383 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477 0.00001
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del) rs750595350
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del) rs1553197476
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) rs747914097
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly) rs770343722
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del) rs1425479122
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del) rs1554999148
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup) rs757802200
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup) rs1554999610
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal) rs779622577

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.