ClinVar Miner

List of variants reported as uncertain significance for achondrogenesis by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
Download table as spreadsheet
HGVS dbSNP
NM_000112.3(SLC26A2):c.*1146G>T rs886060232
NM_000112.3(SLC26A2):c.*1221delA rs886060233
NM_000112.3(SLC26A2):c.*1221dupA 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.*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.*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.*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.*3435C>G rs189916904
NM_000112.3(SLC26A2):c.*3580A>G rs148424806
NM_000112.3(SLC26A2):c.*3693_*3695delCAG rs886060246
NM_000112.3(SLC26A2):c.*4064dupA 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.*4469dupT 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.*4930C>T rs79521091
NM_000112.3(SLC26A2):c.*5387T>G rs567348765
NM_000112.3(SLC26A2):c.*53C>G rs886060226
NM_000112.3(SLC26A2):c.*896A>G rs886060230
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.-40G>A rs532461120
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.3(SLC26A2):c.1402C>T (p.Leu468Phe) rs886060224
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
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.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.3(SLC26A2):c.2129A>G (p.Tyr710Cys) rs374692915
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.699+13G>T rs886060222
NM_000112.3(SLC26A2):c.793C>T (p.Leu265Phe) rs886060223
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.3(SLC26A2):c.993A>C (p.Ala331=) rs772104667
NM_004239.4(TRIP11):c.*100A>G rs144403505
NM_004239.4(TRIP11):c.*1194A>G rs886050894
NM_004239.4(TRIP11):c.*1294A>G rs143185383
NM_004239.4(TRIP11):c.*1339del rs35251290
NM_004239.4(TRIP11):c.*163C>T rs142907939
NM_004239.4(TRIP11):c.*290A>G rs189206458
NM_004239.4(TRIP11):c.*312A>G rs565776732
NM_004239.4(TRIP11):c.*362C>G rs886050902
NM_004239.4(TRIP11):c.*383del rs547231708
NM_004239.4(TRIP11):c.*383dup rs547231708
NM_004239.4(TRIP11):c.*384A>T rs886050900
NM_004239.4(TRIP11):c.*409A>G rs886050899
NM_004239.4(TRIP11):c.*491A>C rs886050898
NM_004239.4(TRIP11):c.*544C>T rs528182792
NM_004239.4(TRIP11):c.*628C>T rs886050897
NM_004239.4(TRIP11):c.*840A>G rs368630607
NM_004239.4(TRIP11):c.*891A>G rs886050896
NM_004239.4(TRIP11):c.*904A>G rs886050895
NM_004239.4(TRIP11):c.*9C>G rs373269085
NM_004239.4(TRIP11):c.-128C>T rs886050910
NM_004239.4(TRIP11):c.-24G>A rs199937850
NM_004239.4(TRIP11):c.-255G>A rs886050911
NM_004239.4(TRIP11):c.-265C>A rs532470754
NM_004239.4(TRIP11):c.-267A>G rs886050912
NM_004239.4(TRIP11):c.-272G>C rs886050913
NM_004239.4(TRIP11):c.-333G>A rs559266963
NM_004239.4(TRIP11):c.-335G>A rs886050914
NM_004239.4(TRIP11):c.-337C>T rs886050915
NM_004239.4(TRIP11):c.-58C>T rs886050909
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112
NM_004239.4(TRIP11):c.1186+14G>A rs371492052
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) rs142579179
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) rs749219134
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373
NM_004239.4(TRIP11):c.1934_1937AAGA[1] (p.Arg647fs) rs773312108
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) rs374243914
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) rs886050907
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) rs201417947
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) rs200045450
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) rs769979770
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) rs886050906
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) rs766014867
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441
NM_004239.4(TRIP11):c.4699-4C>G rs886050905
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) rs370124193
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) rs886050904
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) rs536393273
NM_004239.4(TRIP11):c.5457+13T>A rs886050903
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) rs149079426
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) rs886050908
NM_004239.4(TRIP11):c.823+4A>T rs778772980
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) rs373532678

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