ClinVar Miner

List of variants in gene SLC26A2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
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.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000112.4(SLC26A2):c.-25-131A>G rs17110742 0.18797
NM_000112.4(SLC26A2):c.-25-228G>A rs3812007 0.18723
NM_000112.4(SLC26A2):c.700-231G>C rs6860282 0.14318
NM_000112.4(SLC26A2):c.*4982A>G rs74589369 0.04589
NM_000112.4(SLC26A2):c.*3670G>A rs76262875 0.04581
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.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.*4930C>T rs79521091 0.00981
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_000112.4(SLC26A2):c.*83T>G rs143847430 0.00356
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00106
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.893A>G (p.His298Arg) rs115111282 0.00044
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000112.4(SLC26A2):c.1295A>G (p.His432Arg) rs116443969 0.00026
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000112.4(SLC26A2):c.699+20T>C rs368382498 0.00022
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.807C>T (p.Ala269=) rs148445106 0.00014
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919 0.00012
NM_000112.4(SLC26A2):c.196T>C (p.Phe66Leu) rs200981220 0.00010
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
NM_000112.4(SLC26A2):c.*4469del rs397883627
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1831del (p.Val611fs) rs1057518327
NM_000112.4(SLC26A2):c.700-292dup rs11450678
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg) rs377432261
NM_000112.4(SLC26A2):c.982A>G (p.Lys328Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.