ClinVar Miner

List of variants studied for diastrophic dysplasia

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
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HGVS dbSNP
NC_000005.10:g.149960741C>T
NM_000112.3(SLC26A2):c.*1024T>G rs8073
NM_000112.3(SLC26A2):c.*1146G>T rs886060232
NM_000112.3(SLC26A2):c.*1221del rs886060233
NM_000112.3(SLC26A2):c.*1221dup rs886060233
NM_000112.3(SLC26A2):c.*1427G>A rs760907801
NM_000112.3(SLC26A2):c.*1543C>T rs886060235
NM_000112.3(SLC26A2):c.*1552G>C rs143723917
NM_000112.3(SLC26A2):c.*1631C>T rs7717795
NM_000112.3(SLC26A2):c.*1892dup rs148778566
NM_000112.3(SLC26A2):c.*1970G>T rs147208348
NM_000112.3(SLC26A2):c.*2003A>G rs886060237
NM_000112.3(SLC26A2):c.*205G>A rs115383424
NM_000112.3(SLC26A2):c.*216T>G rs886060227
NM_000112.3(SLC26A2):c.*2176A>G rs772022436
NM_000112.3(SLC26A2):c.*2226C>T rs7722454
NM_000112.3(SLC26A2):c.*2289T>C rs886060238
NM_000112.3(SLC26A2):c.*2330C>T rs886060239
NM_000112.3(SLC26A2):c.*2357T>C rs886060240
NM_000112.3(SLC26A2):c.*2443A>G rs886060241
NM_000112.3(SLC26A2):c.*2470T>G rs555959221
NM_000112.3(SLC26A2):c.*2603T>C rs749507700
NM_000112.3(SLC26A2):c.*2612C>T rs28451300
NM_000112.3(SLC26A2):c.*2617C>T rs188922059
NM_000112.3(SLC26A2):c.*264C>G rs886060228
NM_000112.3(SLC26A2):c.*2772C>T rs886060242
NM_000112.3(SLC26A2):c.*2780G>A rs9324635
NM_000112.3(SLC26A2):c.*2790G>A rs886060243
NM_000112.3(SLC26A2):c.*300C>T rs570796999
NM_000112.3(SLC26A2):c.*3044G>A rs886060244
NM_000112.3(SLC26A2):c.*3165G>A rs185603342
NM_000112.3(SLC26A2):c.*3225T>C rs144502932
NM_000112.3(SLC26A2):c.*3261A>C rs886060245
NM_000112.3(SLC26A2):c.*3307A>G rs557854258
NM_000112.3(SLC26A2):c.*330G>T rs191884433
NM_000112.3(SLC26A2):c.*3404C>T rs30833
NM_000112.3(SLC26A2):c.*3435C>G rs189916904
NM_000112.3(SLC26A2):c.*3466C>G rs6888879
NM_000112.3(SLC26A2):c.*3580A>G rs148424806
NM_000112.3(SLC26A2):c.*3670G>A rs76262875
NM_000112.3(SLC26A2):c.*3693_*3695delCAG rs886060246
NM_000112.3(SLC26A2):c.*394T>A rs140641532
NM_000112.3(SLC26A2):c.*4064dup rs886060247
NM_000112.3(SLC26A2):c.*4224A>G rs777116235
NM_000112.3(SLC26A2):c.*4333G>A rs886060248
NM_000112.3(SLC26A2):c.*4391G>T rs150508217
NM_000112.3(SLC26A2):c.*4397A>G rs547302746
NM_000112.3(SLC26A2):c.*4460G>T rs111742763
NM_000112.3(SLC26A2):c.*4469del rs397883627
NM_000112.3(SLC26A2):c.*4469dup rs397883627
NM_000112.3(SLC26A2):c.*453G>A rs886060229
NM_000112.3(SLC26A2):c.*4586C>T rs886060250
NM_000112.3(SLC26A2):c.*4612G>A rs886060251
NM_000112.3(SLC26A2):c.*4782A>G rs886060252
NM_000112.3(SLC26A2):c.*4799G>A rs72832119
NM_000112.3(SLC26A2):c.*4870dup rs368872246
NM_000112.3(SLC26A2):c.*4930C>T rs79521091
NM_000112.3(SLC26A2):c.*4982A>G rs74589369
NM_000112.3(SLC26A2):c.*5338T>C rs17711997
NM_000112.3(SLC26A2):c.*5387T>G rs567348765
NM_000112.3(SLC26A2):c.*53C>G rs886060226
NM_000112.3(SLC26A2):c.*5553G>A rs10476926
NM_000112.3(SLC26A2):c.*590C>T rs1046710
NM_000112.3(SLC26A2):c.*600G>T rs143723255
NM_000112.3(SLC26A2):c.*896A>G rs886060230
NM_000112.3(SLC26A2):c.*938T>C rs150188068
NM_000112.3(SLC26A2):c.*974C>G rs886060231
NM_000112.3(SLC26A2):c.-162T>C rs564087874
NM_000112.3(SLC26A2):c.-163T>C rs886060221
NM_000112.3(SLC26A2):c.-183G>C rs540241474
NM_000112.3(SLC26A2):c.-206T>A rs560467935
NM_000112.3(SLC26A2):c.-223A>G rs886060220
NM_000112.3(SLC26A2):c.-235T>C rs760297706
NM_000112.3(SLC26A2):c.-238G>A rs11953129
NM_000112.3(SLC26A2):c.-256G>A rs886060219
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.-40G>A rs532461120
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.3(SLC26A2):c.1194A>T (p.Val398=) rs886038240
NM_000112.3(SLC26A2):c.1234G>A (p.Val412Ile) rs201714602
NM_000112.3(SLC26A2):c.1242_1245del (p.Asn415fs) rs386833494
NM_000112.3(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.3(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.3(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.3(SLC26A2):c.1338del (p.Glu447fs) rs1057517502
NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) rs104893921
NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1451G>A (p.Gly484Asp) rs386833496
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078
NM_000112.3(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.3(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758
NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254
NM_000112.3(SLC26A2):c.1761C>G (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.1761C>T (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.3(SLC26A2):c.188del (p.Asp63fs) rs1057517496
NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.1982del (p.Thr661fs) rs762137330
NM_000112.3(SLC26A2):c.1983del (p.Ala662fs) rs386833500
NM_000112.3(SLC26A2):c.1998_1999delAC rs1057517513
NM_000112.3(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.3(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916
NM_000112.3(SLC26A2):c.2046G>A (p.Leu682=) rs116657359
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.207del (p.Phe69fs) rs1057517462
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.2120_2121del (p.Leu707fs) rs386833501
NM_000112.3(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.3(SLC26A2):c.255del (p.Asn87fs) rs386833502
NM_000112.3(SLC26A2):c.331G>T (p.Asp111Tyr) rs386833503
NM_000112.3(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.3(SLC26A2):c.398C>T (p.Ala133Val) rs267607055
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.3(SLC26A2):c.468C>T (p.Thr156=) rs111788154
NM_000112.3(SLC26A2):c.47C>G (p.Ser16Ter) rs386833505
NM_000112.3(SLC26A2):c.496G>A (p.Gly166Arg) rs386833506
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) rs1057517483
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.3(SLC26A2):c.699+13G>T rs886060222
NM_000112.3(SLC26A2):c.699+2T>C rs1057517461
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000112.3(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.3(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.3(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147
NM_000112.3(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.3(SLC26A2):c.807C>T (p.Ala269=) rs148445106
NM_000112.3(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.3(SLC26A2):c.906_907delCT rs386833509
NM_000112.3(SLC26A2):c.918del (p.Thr307fs) rs1057517526
NM_000112.3(SLC26A2):c.922del (p.Ser308fs) rs1057517495
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.3(SLC26A2):c.993A>C (p.Ala331=) rs772104667
NM_000112.4(SLC26A2):c.*1032G>T
NM_000112.4(SLC26A2):c.*1040T>C
NM_000112.4(SLC26A2):c.*1071G>A
NM_000112.4(SLC26A2):c.*1260C>T
NM_000112.4(SLC26A2):c.*1376T>G
NM_000112.4(SLC26A2):c.*1588T>C
NM_000112.4(SLC26A2):c.*182C>G
NM_000112.4(SLC26A2):c.*1935T>A
NM_000112.4(SLC26A2):c.*204C>T
NM_000112.4(SLC26A2):c.*220T>A
NM_000112.4(SLC26A2):c.*2212T>G
NM_000112.4(SLC26A2):c.*2232A>T
NM_000112.4(SLC26A2):c.*2265C>T
NM_000112.4(SLC26A2):c.*2476T>C
NM_000112.4(SLC26A2):c.*2720C>T
NM_000112.4(SLC26A2):c.*2873C>T
NM_000112.4(SLC26A2):c.*2970G>A
NM_000112.4(SLC26A2):c.*2978A>G
NM_000112.4(SLC26A2):c.*3037G>A
NM_000112.4(SLC26A2):c.*3262T>C
NM_000112.4(SLC26A2):c.*3360A>T
NM_000112.4(SLC26A2):c.*3507T>A
NM_000112.4(SLC26A2):c.*3918C>T
NM_000112.4(SLC26A2):c.*3940C>T
NM_000112.4(SLC26A2):c.*4017C>A
NM_000112.4(SLC26A2):c.*4104A>T
NM_000112.4(SLC26A2):c.*4419A>C
NM_000112.4(SLC26A2):c.*443T>C
NM_000112.4(SLC26A2):c.*4462T>G
NM_000112.4(SLC26A2):c.*4514T>G
NM_000112.4(SLC26A2):c.*4659G>T
NM_000112.4(SLC26A2):c.*4857A>G
NM_000112.4(SLC26A2):c.*5077A>G
NM_000112.4(SLC26A2):c.*5203C>T
NM_000112.4(SLC26A2):c.*5214A>G
NM_000112.4(SLC26A2):c.*5251C>T
NM_000112.4(SLC26A2):c.*5416A>C
NM_000112.4(SLC26A2):c.*693G>T
NM_000112.4(SLC26A2):c.*834T>C
NM_000112.4(SLC26A2):c.-229T>C
NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1059T>C (p.His353=) rs114841644
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
NM_000112.4(SLC26A2):c.1609T>C (p.Phe537Leu)
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys)
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His)
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His)
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu)
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs)
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863
NM_000112.4(SLC26A2):c.2057G>A (p.Cys686Tyr) rs1581232671
NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=)
NM_000112.4(SLC26A2):c.280C>T (p.Pro94Ser)
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095
NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe)
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=) rs112360373
NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val)
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000112.4(SLC26A2):c.837G>T (p.Arg279=)
NM_000112.4(SLC26A2):c.841A>C (p.Asn281His)
NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys)

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