ClinVar Miner

List of variants reported as uncertain significance for Achondrogenesis, type IB

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.*330G>T rs191884433 0.00587
NM_000112.4(SLC26A2):c.*2470T>G rs555959221 0.00274
NM_000112.4(SLC26A2):c.*1032G>T rs188329536 0.00085
NM_000112.4(SLC26A2):c.*1588T>C rs537659797 0.00083
NM_000112.4(SLC26A2):c.*300C>T rs570796999 0.00077
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000112.4(SLC26A2):c.*3225T>C rs144502932 0.00064
NM_000112.4(SLC26A2):c.*3307A>G rs557854258 0.00060
NM_000112.4(SLC26A2):c.-162T>C rs564087874 0.00060
NM_000112.4(SLC26A2):c.*3262T>C rs545457852 0.00059
NM_000112.4(SLC26A2):c.-40G>A rs532461120 0.00045
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe) rs75097996 0.00032
NM_000112.4(SLC26A2):c.*1427G>A rs760907801 0.00026
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000112.4(SLC26A2):c.*2720C>T rs557400349 0.00023
NM_000112.4(SLC26A2):c.*4462T>G rs999338434 0.00023
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_000112.4(SLC26A2):c.*3435C>G rs189916904 0.00021
NM_000112.4(SLC26A2):c.*1935T>A rs537754833 0.00015
NM_000112.4(SLC26A2):c.*2978A>G rs181164665 0.00014
NM_000112.4(SLC26A2):c.*3165G>A rs185603342 0.00014
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095 0.00014
NM_000112.3(SLC26A2):c.-256G>A rs886060219 0.00011
NM_000112.4(SLC26A2):c.*2176A>G rs772022436 0.00011
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000112.4(SLC26A2):c.*4612G>A rs886060251 0.00010
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) rs200897133 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915 0.00009
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000112.4(SLC26A2):c.*4586C>T rs886060250 0.00008
NM_000112.3(SLC26A2):c.-264C>T rs963803079 0.00007
NM_000112.4(SLC26A2):c.*834T>C rs767822866 0.00007
NM_000112.4(SLC26A2):c.*2003A>G rs886060237 0.00006
NM_000112.4(SLC26A2):c.*3580A>G rs148424806 0.00006
NM_000112.4(SLC26A2):c.*4224A>G rs777116235 0.00006
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000112.4(SLC26A2):c.*2212T>G rs777419320 0.00004
NM_000112.4(SLC26A2):c.*2232A>T rs1233972792 0.00004
NM_000112.4(SLC26A2):c.1609T>C (p.Phe537Leu) rs762087746 0.00004
NM_000112.4(SLC26A2):c.*216T>G rs886060227 0.00003
NM_000112.4(SLC26A2):c.*2603T>C rs749507700 0.00003
NM_000112.4(SLC26A2):c.*2772C>T rs886060242 0.00003
NM_000112.4(SLC26A2):c.*4782A>G rs886060252 0.00003
NM_000112.4(SLC26A2):c.*693G>T rs974372860 0.00003
NM_000112.4(SLC26A2):c.-235T>C rs760297706 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000112.4(SLC26A2):c.993A>C (p.Ala331=) rs772104667 0.00003
NM_000112.4(SLC26A2):c.*182C>G rs770082455 0.00002
NM_000112.4(SLC26A2):c.*220T>A rs775637237 0.00002
NM_000112.4(SLC26A2):c.*2289T>C rs886060238 0.00002
NM_000112.4(SLC26A2):c.*2443A>G rs886060241 0.00002
NM_000112.4(SLC26A2):c.*453G>A rs886060229 0.00002
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00002
NM_000112.4(SLC26A2):c.740A>G (p.Tyr247Cys) rs768745973 0.00002
NM_000112.4(SLC26A2):c.*1071G>A rs1297589956 0.00001
NM_000112.4(SLC26A2):c.*2265C>T rs1561826201 0.00001
NM_000112.4(SLC26A2):c.*2330C>T rs886060239 0.00001
NM_000112.4(SLC26A2):c.*3037G>A rs1171255123 0.00001
NM_000112.4(SLC26A2):c.*3261A>C rs886060245 0.00001
NM_000112.4(SLC26A2):c.*5077A>G rs1430276243 0.00001
NM_000112.4(SLC26A2):c.*5203C>T rs559269489 0.00001
NM_000112.4(SLC26A2):c.*5251C>T rs569655749 0.00001
NM_000112.4(SLC26A2):c.*53C>G rs886060226 0.00001
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His) rs368864462 0.00001
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) rs1387357203 0.00001
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=) rs886060225 0.00001
NM_000112.4(SLC26A2):c.280C>T (p.Pro94Ser) rs771569066 0.00001
NM_000112.4(SLC26A2):c.502C>T (p.Leu168=) rs745566850 0.00001
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln) rs747117439 0.00001
NM_000112.4(SLC26A2):c.709G>A (p.Gly237Ser) rs758186195 0.00001
NM_000112.4(SLC26A2):c.*1040T>C rs1755133644
NM_000112.4(SLC26A2):c.*1146G>T rs886060232
NM_000112.4(SLC26A2):c.*1260C>T rs568364063
NM_000112.4(SLC26A2):c.*1376T>G rs1028181479
NM_000112.4(SLC26A2):c.*1543C>T rs886060235
NM_000112.4(SLC26A2):c.*204C>T rs529744947
NM_000112.4(SLC26A2):c.*2357T>C rs886060240
NM_000112.4(SLC26A2):c.*264C>G rs886060228
NM_000112.4(SLC26A2):c.*2790G>A rs886060243
NM_000112.4(SLC26A2):c.*2970G>A rs572039810
NM_000112.4(SLC26A2):c.*3044G>A rs886060244
NM_000112.4(SLC26A2):c.*3360A>T rs1755178371
NM_000112.4(SLC26A2):c.*3940C>T rs1048014506
NM_000112.4(SLC26A2):c.*4017C>A rs1755189390
NM_000112.4(SLC26A2):c.*4104A>T rs1372026789
NM_000112.4(SLC26A2):c.*4333G>A rs886060248
NM_000112.4(SLC26A2):c.*4514T>G rs1755199198
NM_000112.4(SLC26A2):c.*4857A>G rs1755205853
NM_000112.4(SLC26A2):c.*5214A>G rs1755210770
NM_000112.4(SLC26A2):c.*5387T>G rs567348765
NM_000112.4(SLC26A2):c.*5416A>C rs1007945580
NM_000112.4(SLC26A2):c.*896A>G rs886060230
NM_000112.4(SLC26A2):c.*974C>G rs886060231
NM_000112.4(SLC26A2):c.-163T>C rs886060221
NM_000112.4(SLC26A2):c.-206T>A rs560467935
NM_000112.4(SLC26A2):c.-223A>G rs886060220
NM_000112.4(SLC26A2):c.-229T>C rs766027398
NM_000112.4(SLC26A2):c.-238G>A rs11953129
NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg) rs1392464335
NM_000112.4(SLC26A2):c.1241C>T (p.Ala414Val) rs2113698470
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.4(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe) rs2113699055
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.1849G>A (p.Ala617Thr) rs2113699347
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.473G>A (p.Arg158His) rs143658243
NM_000112.4(SLC26A2):c.699+13G>T rs886060222
NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val) rs1228615816
NM_000112.4(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=) rs1755073343
NM_000112.4(SLC26A2):c.841A>C (p.Asn281His) rs1755073505
NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys) rs571410872
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790

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.