List of variants in gene SLC26A2 reported as likely pathogenic for Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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.700-1G>C	rs200963884	0.00005
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	rs769319202	0.00001
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)	rs386833493
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn)	rs2113698521
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr)	rs2113698521
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)	rs2113698845
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)	rs2113698870
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	rs1554095374
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)	rs1179580843
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs)	rs773490671
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs)	rs1581232733
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)	rs759438521
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)	rs377432261

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.