ClinVar Miner

List of variants studied for Diastrophic dysplasia

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ClinVar version:
Total variants: 216
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_000112.4(SLC26A2):c.*3404C>T rs30833 0.98883
NM_000112.4(SLC26A2):c.*1024T>G rs8073 0.21816
NM_000112.4(SLC26A2):c.*5553G>A rs10476926 0.20874
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.*5338T>C rs17711997 0.14477
NM_000112.4(SLC26A2):c.*4982A>G rs74589369 0.04589
NM_000112.4(SLC26A2):c.*1892dup rs148778566 0.04587
NM_000112.4(SLC26A2):c.*3670G>A rs76262875 0.04581
NM_000112.4(SLC26A2):c.*2226C>T rs7722454 0.04260
NM_000112.4(SLC26A2):c.*4460G>T rs111742763 0.03131
NM_000112.4(SLC26A2):c.*590C>T rs1046710 0.03077
NM_000112.4(SLC26A2):c.*1631C>T rs7717795 0.03068
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_000112.4(SLC26A2):c.*2617C>T rs188922059 0.01558
NM_000112.4(SLC26A2):c.*4391G>T rs150508217 0.01531
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_000112.4(SLC26A2):c.*3466C>G rs6888879 0.01309
NM_000112.4(SLC26A2):c.*2612C>T rs28451300 0.01303
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
NM_000112.4(SLC26A2):c.*394T>A rs140641532 0.00987
NM_000112.4(SLC26A2):c.*4870dup rs368872246 0.00983
NM_000112.4(SLC26A2):c.*938T>C rs150188068 0.00983
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_000112.4(SLC26A2):c.*2873C>T rs114919633 0.00970
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000112.4(SLC26A2):c.*1552G>C rs143723917 0.00675
NM_000112.4(SLC26A2):c.*2780G>A rs9324635 0.00587
NM_000112.4(SLC26A2):c.*330G>T rs191884433 0.00587
NM_000112.4(SLC26A2):c.-183G>C rs540241474 0.00338
NM_000112.4(SLC26A2):c.*3507T>A rs180966130 0.00309
NM_000112.4(SLC26A2):c.*205G>A rs115383424 0.00280
NM_000112.4(SLC26A2):c.*2470T>G rs555959221 0.00274
NM_000112.4(SLC26A2):c.*443T>C rs115977282 0.00246
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000112.4(SLC26A2):c.*4659G>T rs143908264 0.00169
NM_000112.4(SLC26A2):c.*1970G>T rs147208348 0.00148
NM_000112.4(SLC26A2):c.*600G>T rs143723255 0.00148
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
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.-26+2T>C rs386833492 0.00055
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.229A>C (p.Asn77His) rs76784312 0.00025
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.1410A>G (p.Val470=) rs115777661 0.00017
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.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
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.*4397A>G rs547302746 0.00009
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.*4064dup rs886060247 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.700-1G>C rs200963884 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.*3918C>T rs192457706 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.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504 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.2033G>T (p.Gly678Val) rs104893916 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.1361A>C (p.Gln454Pro) rs104893921 0.00001
NM_000112.4(SLC26A2):c.1451G>A (p.Gly484Asp) rs386833496 0.00001
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078 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.1982del (p.Thr661fs) rs762137330 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.398C>T (p.Ala133Val) rs267607055 0.00001
NM_000112.4(SLC26A2):c.*1040T>C rs1755133644
NM_000112.4(SLC26A2):c.*1146G>T rs886060232
NM_000112.4(SLC26A2):c.*1221del rs886060233
NM_000112.4(SLC26A2):c.*1221dup rs886060233
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.*2476T>C rs570682108
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.*3690CAG[1] rs886060246
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.*4419A>C rs140200789
NM_000112.4(SLC26A2):c.*4469del rs397883627
NM_000112.4(SLC26A2):c.*4469dup rs397883627
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[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1011TGT[5] (p.Val341dup) rs121908077
NM_000112.4(SLC26A2):c.1058A>G (p.His353Arg) rs1392464335
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.4(SLC26A2):c.1114A>T (p.Lys372Ter) rs1755081510
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.4(SLC26A2):c.1241C>T (p.Ala414Val) rs2113698470
NM_000112.4(SLC26A2):c.1242_1245del (p.Asn415fs) rs386833494
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs) rs1057517502
NM_000112.4(SLC26A2):c.1375_1377dup (p.Val459dup) rs2113698643
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs) rs1459144096
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.4(SLC26A2):c.1668G>T (p.Leu556Phe) rs2113699055
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.4(SLC26A2):c.1773_1776del (p.Asn591fs) rs1755096552
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.4(SLC26A2):c.1819del (p.Ile607fs)
NM_000112.4(SLC26A2):c.1849G>A (p.Ala617Thr) rs2113699347
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.4(SLC26A2):c.188del (p.Asp63fs) rs1057517496
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.4(SLC26A2):c.1983del (p.Ala662fs) rs386833500
NM_000112.4(SLC26A2):c.1994dup (p.His665fs) rs2113699563
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs) rs1057517513
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.4(SLC26A2):c.2057G>A (p.Cys686Tyr) rs1581232671
NM_000112.4(SLC26A2):c.207del (p.Phe69fs) rs1057517462
NM_000112.4(SLC26A2):c.2120_2121del (p.Leu707fs) rs386833501
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=) rs1755110758
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.4(SLC26A2):c.255del (p.Asn87fs) rs386833502
NM_000112.4(SLC26A2):c.306C>G (p.Tyr102Ter) rs768809642
NM_000112.4(SLC26A2):c.331G>T (p.Asp111Tyr) rs386833503
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter) rs386833505
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.496G>A (p.Gly166Arg) rs386833506
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter) rs1057517483
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.4(SLC26A2):c.699+13G>T rs886060222
NM_000112.4(SLC26A2):c.699+2T>C rs1057517461
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val) rs1228615816
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.749A>T (p.Asp250Val) rs2113697665
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.906_907del (p.Leu302_Cys303insTer) rs386833509
NM_000112.4(SLC26A2):c.918del (p.Thr307fs) rs1057517526
NM_000112.4(SLC26A2):c.922del (p.Ser308fs) rs1057517495

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