ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome 16 by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_006642.5(SDCCAG8):c.*149T>C rs1057515424
NM_006642.5(SDCCAG8):c.*97G>A rs554190542
NM_006642.5(SDCCAG8):c.-106G>T rs886046328
NM_006642.5(SDCCAG8):c.-121C>T rs768318766
NM_006642.5(SDCCAG8):c.-130C>A rs547776191
NM_006642.5(SDCCAG8):c.-131T>C rs886046327
NM_006642.5(SDCCAG8):c.-98C>T rs886046329
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=) rs759125934
NM_006642.5(SDCCAG8):c.1474-6C>T rs376414138
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg)
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
NM_006642.5(SDCCAG8):c.1745-7T>A rs532763241
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met) rs1057515530
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_006642.5(SDCCAG8):c.306+11A>G rs781456866
NM_006642.5(SDCCAG8):c.348C>T (p.His116=) rs143226730
NM_006642.5(SDCCAG8):c.420+12A>G
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006642.5(SDCCAG8):c.676-4A>G rs377256554
NM_006642.5(SDCCAG8):c.741-7T>C
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=) rs138449445
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036

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.