ClinVar Miner

List of variants studied for Joubert syndrome 16 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_016464.5(TMEM138):c.*228C>G rs536120944 0.00063
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046 0.00042
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_016464.5(TMEM138):c.-157C>G rs779029696 0.00032
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_016464.5(TMEM138):c.-169C>T rs553390222 0.00021
NM_016464.5(TMEM138):c.-23G>A rs192056545 0.00011
NM_016464.5(TMEM138):c.-55G>A rs555405590 0.00011
NM_016464.5(TMEM138):c.-71G>A rs199532763 0.00011
NM_016464.5(TMEM138):c.*92G>C rs372997712 0.00010
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu) rs773659373 0.00008
NM_016464.5(TMEM138):c.*354C>G rs889868449 0.00006
NM_016464.5(TMEM138):c.*547C>T rs781358495 0.00006
NM_016464.5(TMEM138):c.-164T>C rs886048407 0.00006
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_016464.5(TMEM138):c.*264C>G rs886048409 0.00003
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923 0.00003
NM_016464.5(TMEM138):c.*548G>A rs1565080891 0.00002
NM_016464.5(TMEM138):c.-17G>A rs757369483 0.00001
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg) rs1858145836
NM_016464.5(TMEM138):c.379G>T (p.Ala127Ser) rs1349854928

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.