ClinVar Miner

List of variants in gene SLC26A2 reported as likely pathogenic for Achondrogenesis, type IB

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter) rs775143472 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.145del (p.Arg49fs) rs1265764649 0.00001
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) rs774648833 0.00001
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) rs762137330 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.-26+1G>A
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.4(SLC26A2):c.111del (p.Asp38fs)
NM_000112.4(SLC26A2):c.1142dup (p.Ser381fs)
NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.4(SLC26A2):c.1217_1223del (p.Lys406fs)
NM_000112.4(SLC26A2):c.1240_1244del (p.Ala414fs)
NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter) rs2113698485
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp) rs104893920
NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs) rs1057517502
NM_000112.4(SLC26A2):c.134del (p.Asn45fs)
NM_000112.4(SLC26A2):c.1375dup (p.Val459fs)
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs) rs1755088251
NM_000112.4(SLC26A2):c.139C>T (p.Gln47Ter)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs) rs780990131
NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)
NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs) rs745774620
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.4(SLC26A2):c.1621del (p.Cys541fs)
NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter) rs1755094376
NM_000112.4(SLC26A2):c.165_166insCT (p.Ile56fs)
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.4(SLC26A2):c.1714del (p.Leu572fs) rs2113699101
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter) rs1554095364
NM_000112.4(SLC26A2):c.1773_1776del (p.Asn591fs) rs1755096552
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter) rs905644652
NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)
NM_000112.4(SLC26A2):c.1800C>A (p.Tyr600Ter)
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs) rs1554095374
NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs) rs1755100270
NM_000112.4(SLC26A2):c.188del (p.Asp63fs) rs1057517496
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs) rs1481910744
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.1994dup (p.His665fs) rs2113699563
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs) rs1057517513
NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.2053C>T (p.Gln685Ter)
NM_000112.4(SLC26A2):c.2056del (p.Cys686fs)
NM_000112.4(SLC26A2):c.2065_2068delinsTC (p.Thr689fs)
NM_000112.4(SLC26A2):c.207del (p.Phe69fs) rs1057517462
NM_000112.4(SLC26A2):c.2089G>T (p.Gly697Ter)
NM_000112.4(SLC26A2):c.2125_2126del (p.Phe709fs)
NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)
NM_000112.4(SLC26A2):c.223del (p.Gln75fs)
NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter) rs1755020578
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.4(SLC26A2):c.293G>A (p.Trp98Ter)
NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)
NM_000112.4(SLC26A2):c.299del (p.Pro100fs) rs1581230727
NM_000112.4(SLC26A2):c.314del (p.Lys105fs)
NM_000112.4(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.47C>G (p.Ser16Ter) rs386833505
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu)
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs) rs763198695
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.578_581del (p.Pro192_Ser193insTer) rs1554095154
NM_000112.4(SLC26A2):c.613_617del (p.Asn205fs)
NM_000112.4(SLC26A2):c.638del (p.Asp213fs)
NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs) rs1554095167
NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.4(SLC26A2):c.705_711del (p.Met236fs) rs386833508
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.807dup (p.Lys270fs)
NM_000112.4(SLC26A2):c.822del (p.Leu275fs)
NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)
NM_000112.4(SLC26A2):c.892del (p.His298fs)
NM_000112.4(SLC26A2):c.906_907del (p.Leu302_Cys303insTer) rs386833509
NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)
NM_000112.4(SLC26A2):c.918del (p.Thr307fs) rs1057517526
NM_000112.4(SLC26A2):c.922del (p.Ser308fs) rs1057517495

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.