List of variants studied for achondrogenesis type IB by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)	rs3776070	0.19906
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	rs78676079	0.01642
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)	rs114212275	0.00073
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
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.1273A>G (p.Asn425Asp)	rs104893920
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	rs1554095374
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675

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.