ClinVar Miner

List of variants in gene SLC26A2 reported as uncertain significance for achondrogenesis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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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.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1234G>A (p.Val412Ile)
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.2164T>C (p.Ser722Pro)
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.699+13G>T rs886060222
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.892C>A (p.His298Asn)
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.3(SLC26A2):c.993A>C (p.Ala331=) rs772104667

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