ClinVar Miner

List of variants reported as pathogenic for bone resorption disease

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_004252.5(NHERF1):c.673G>A (p.Glu225Lys) rs119486097 0.00351
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_001177316.2(SLC34A3):c.496G>A (p.Gly166Ser) rs200536604 0.00009
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) rs72651642 0.00001
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
GRCh37/hg19 Xq23(chrX:113097589-114931342)
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) rs72648326
NM_000088.4(COL1A1):c.1299+1G>A rs66490707
NM_000088.4(COL1A1):c.1614+1G>A rs72648357
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) rs1351742344
NM_000088.4(COL1A1):c.1821+1G>A rs66555264
NM_000088.4(COL1A1):c.2343+1G>A rs1114167378
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) rs67879854
NM_000088.4(COL1A1):c.288del (p.Asp97fs) rs2144593759
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) rs72653173
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) rs1555571916
NM_000088.4(COL1A1):c.579del (p.Gly194fs) rs72667023
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) rs72645321
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) rs72645347
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) rs72645357
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.4(COL1A2):c.1531G>A (p.Gly511Ser) rs72658125
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.1981G>A (p.Gly661Ser) rs72658152
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser) rs72656370
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe) rs121918610
NM_003052.5(SLC34A1):c.439G>A (p.Val147Met) rs121918611
NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) rs1554095568
NM_005032.7(PLS3):c.1512-1G>T rs2147590595
NM_005032.7(PLS3):c.216_219del (p.Ser73fs) rs2074664927
NM_005032.7(PLS3):c.256del (p.Ser86fs) rs1135402748
NM_005430.4(WNT1):c.465C>A (p.Tyr155Ter)

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.