ClinVar Miner

List of variants reported as uncertain significance for achondrogenesis type IB

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 245
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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 0.00081
NM_000112.4(SLC26A2):c.*1588T>C rs537659797 0.00079
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.*3262T>C rs545457852 0.00060
NM_000112.4(SLC26A2):c.*3307A>G rs557854258 0.00060
NM_000112.4(SLC26A2):c.-162T>C rs564087874 0.00054
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe) rs75097996 0.00032
NM_000112.4(SLC26A2):c.-40G>A rs532461120 0.00029
NM_000112.4(SLC26A2):c.*1427G>A rs760907801 0.00027
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.*3165G>A rs185603342 0.00022
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.474T>C (p.Arg158=) rs374572095 0.00014
NM_000112.4(SLC26A2):c.*2212T>G rs777419320 0.00013
NM_000112.4(SLC26A2):c.*2978A>G rs181164665 0.00013
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys) rs377095681 0.00011
NM_000112.3(SLC26A2):c.-256G>A rs886060219 0.00010
NM_000112.4(SLC26A2):c.*2176A>G rs772022436 0.00010
NM_000112.4(SLC26A2):c.*4586C>T rs886060250 0.00009
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His) rs150314895 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915 0.00008
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 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.117C>G (p.Phe39Leu) rs376023150 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.95A>T (p.Gln32Leu) rs978424390 0.00006
NM_000112.4(SLC26A2):c.*4224A>G rs777116235 0.00005
NM_000112.4(SLC26A2):c.*5251C>T rs569655749 0.00005
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000112.4(SLC26A2):c.627C>A (p.Asp209Glu) rs372226382 0.00005
NM_000112.4(SLC26A2):c.*2232A>T rs1233972792 0.00004
NM_000112.4(SLC26A2):c.*2772C>T rs886060242 0.00004
NM_000112.4(SLC26A2):c.*4612G>A rs886060251 0.00004
NM_000112.4(SLC26A2):c.1192G>A (p.Val398Ile) rs374310335 0.00004
NM_000112.4(SLC26A2):c.1609T>C (p.Phe537Leu) rs762087746 0.00004
NM_000112.4(SLC26A2):c.566A>G (p.His189Arg) rs775447660 0.00004
NM_000112.4(SLC26A2):c.956A>G (p.Lys319Arg) rs536416205 0.00004
NM_000112.4(SLC26A2):c.*2603T>C rs749507700 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.1670T>C (p.Val557Ala) rs370057170 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val) rs756361392 0.00003
NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys) rs376837549 0.00003
NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val) rs752482028 0.00003
NM_000112.4(SLC26A2):c.2147T>C (p.Met716Thr) rs760613033 0.00003
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys) rs762787339 0.00003
NM_000112.4(SLC26A2):c.645T>C (p.Ser215=) rs1396953137 0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 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.1481C>T (p.Ala494Val) rs564881130 0.00002
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) rs200897133 0.00002
NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser) rs146895291 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.*216T>G rs886060227 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.*2790G>A rs886060243 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.*53C>G rs886060226 0.00001
NM_000112.4(SLC26A2):c.1052A>G (p.Lys351Arg) rs1255503996 0.00001
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val) rs1215069127 0.00001
NM_000112.4(SLC26A2):c.1091T>C (p.Ile364Thr) rs1360579129 0.00001
NM_000112.4(SLC26A2):c.1120C>T (p.Pro374Ser) rs763082940 0.00001
NM_000112.4(SLC26A2):c.1135A>C (p.Ile379Leu) rs763790308 0.00001
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp) rs794727476 0.00001
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119 0.00001
NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser) rs750331459 0.00001
NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser) rs773892702 0.00001
NM_000112.4(SLC26A2):c.1355A>G (p.His452Arg) rs1255485754 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg) rs756610256 0.00001
NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr) rs752005332 0.00001
NM_000112.4(SLC26A2):c.1615A>G (p.Ile539Val) rs1448915287 0.00001
NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg) rs1561823072 0.00001
NM_000112.4(SLC26A2):c.1735A>G (p.Lys579Glu) rs375785597 0.00001
NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr) rs934543109 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.1847C>T (p.Ala616Val) rs780207230 0.00001
NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val) rs1334933270 0.00001
NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met) rs780945972 0.00001
NM_000112.4(SLC26A2):c.2006A>T (p.Glu669Val) rs574817339 0.00001
NM_000112.4(SLC26A2):c.2012G>A (p.Arg671His) rs1038419867 0.00001
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val) rs774700553 0.00001
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429 0.00001
NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser) rs1194723014 0.00001
NM_000112.4(SLC26A2):c.2094A>C (p.Glu698Asp) rs371461728 0.00001
NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=) rs886060225 0.00001
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00001
NM_000112.4(SLC26A2):c.25C>G (p.His9Asp) rs151076648 0.00001
NM_000112.4(SLC26A2):c.264G>A (p.Met88Ile) rs1204157806 0.00001
NM_000112.4(SLC26A2):c.280C>T (p.Pro94Ser) rs771569066 0.00001
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504 0.00001
NM_000112.4(SLC26A2):c.473G>A (p.Arg158His) rs143658243 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.535G>A (p.Glu179Lys) rs755031722 0.00001
NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly) rs760309344 0.00001
NM_000112.4(SLC26A2):c.617A>G (p.His206Arg) rs764878581 0.00001
NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser) rs867540010 0.00001
NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe) rs545719885 0.00001
NM_000112.4(SLC26A2):c.699+3A>C rs778015831 0.00001
NM_000112.4(SLC26A2):c.706A>G (p.Met236Val) rs982879554 0.00001
NM_000112.4(SLC26A2):c.709G>A (p.Gly237Ser) rs758186195 0.00001
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.833C>T (p.Pro278Leu) rs1755072978 0.00001
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199 0.00001
NM_000112.4(SLC26A2):c.940G>A (p.Val314Ile) rs777527899 0.00001
NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe) rs1053664339 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.*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.1011TGT[5] (p.Val341dup) rs121908077
NM_000112.4(SLC26A2):c.1028C>T (p.Ala343Val)
NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe) rs2480774865
NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg) rs1392464335
NM_000112.4(SLC26A2):c.1112C>T (p.Pro371Leu) rs1418899122
NM_000112.4(SLC26A2):c.1114A>G (p.Lys372Glu) rs1755081510
NM_000112.4(SLC26A2):c.1115A>G (p.Lys372Arg) rs770371218
NM_000112.4(SLC26A2):c.1154A>C (p.Asp385Ala) rs2113698323
NM_000112.4(SLC26A2):c.1169C>T (p.Ser390Phe) rs2480775165
NM_000112.4(SLC26A2):c.1229A>G (p.Tyr410Cys) rs1297067317
NM_000112.4(SLC26A2):c.1241C>T (p.Ala414Val) rs2113698470
NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala) rs1449461806
NM_000112.4(SLC26A2):c.1312G>T (p.Ala438Ser) rs753130663
NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser) rs775667788
NM_000112.4(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val) rs1326501763
NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu) rs2480775976
NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe) rs2480776021
NM_000112.4(SLC26A2):c.1463T>C (p.Ile488Thr) rs2113698778
NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys) rs768811618
NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu) rs1755018969
NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu) rs2480776291
NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro) rs1561822752
NM_000112.4(SLC26A2):c.158G>A (p.Arg53Lys)
NM_000112.4(SLC26A2):c.1597G>T (p.Val533Phe)
NM_000112.4(SLC26A2):c.1616T>A (p.Ile539Lys) rs1755092949
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1655C>T (p.Ser552Leu) rs1755094376
NM_000112.4(SLC26A2):c.1666T>A (p.Leu556Met) rs1755094647
NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe) rs2113699055
NM_000112.4(SLC26A2):c.1685T>C (p.Val562Ala) rs2480776716
NM_000112.4(SLC26A2):c.1759C>T (p.Leu587Phe) rs2113699190
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.1816C>A (p.Pro606Thr) rs767618201
NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del) rs768995164
NM_000112.4(SLC26A2):c.1849G>A (p.Ala617Thr) rs2113699347
NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr) rs1755101279
NM_000112.4(SLC26A2):c.1952T>C (p.Ile651Thr)
NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln) rs766241120
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu) rs2113699627
NM_000112.4(SLC26A2):c.2037C>G (p.Ile679Met) rs762132863
NM_000112.4(SLC26A2):c.2042T>A (p.Val681Asp) rs1755104737
NM_000112.4(SLC26A2):c.2044C>G (p.Leu682Val) rs751425859
NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu) rs2480770420
NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala) rs3776070
NM_000112.4(SLC26A2):c.2068G>A (p.Val690Met) rs746291695
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs) rs761224496
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr) rs751431865
NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met) rs2480770917
NM_000112.4(SLC26A2):c.431C>A (p.Ser144Tyr) rs1561819566
NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr) rs776787689
NM_000112.4(SLC26A2):c.473G>T (p.Arg158Leu) rs143658243
NM_000112.4(SLC26A2):c.596A>G (p.Asn199Ser) rs2113696251
NM_000112.4(SLC26A2):c.610T>G (p.Leu204Val) rs2480771526
NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys) rs75097996
NM_000112.4(SLC26A2):c.699+13G>T rs886060222
NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val) rs1228615816
NM_000112.4(SLC26A2):c.718C>G (p.Gln240Glu) rs1755069507
NM_000112.4(SLC26A2):c.719A>T (p.Gln240Leu) rs2480774079
NM_000112.4(SLC26A2):c.725G>T (p.Gly242Val) rs2480774094
NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys) rs750742962
NM_000112.4(SLC26A2):c.775G>A (p.Gly259Ser) rs2113697704
NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val) rs772809990
NM_000112.4(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.4(SLC26A2):c.815T>A (p.Leu272His)
NM_000112.4(SLC26A2):c.823C>G (p.Leu275Val)
NM_000112.4(SLC26A2):c.836G>C (p.Arg279Pro) rs114569184
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.842_865del (p.Asn281_Thr288del) rs2113697812
NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg) rs571410872
NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys) rs571410872
NM_000112.4(SLC26A2):c.854C>T (p.Ser285Leu) rs140041300
NM_000112.4(SLC26A2):c.866C>A (p.Thr289Asn) rs1225377370
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790
NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe) rs1051469969
NM_000112.4(SLC26A2):c.953C>T (p.Thr318Ile) rs1343477650
NM_000112.4(SLC26A2):c.965A>G (p.Asn322Ser) rs2113698024
NM_000112.4(SLC26A2):c.970C>T (p.His324Tyr)
NM_000112.4(SLC26A2):c.990_992del (p.Ala331del) rs1202996931

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