ClinVar Miner

List of variants reported as uncertain significance for ALG8-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu) rs1859926872 0.00001
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val) rs990677542 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.439G>T (p.Val147Leu) rs748027702 0.00001
NM_024079.5(ALG8):c.479-3C>G rs753257659 0.00001
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr) rs1276719307 0.00001
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp) rs2136868764
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe) rs2136868701
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu) rs769413308
NM_024079.5(ALG8):c.143A>G (p.His48Arg) rs1861126453
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg) rs758549233
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
NM_024079.5(ALG8):c.478+6C>T
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
NM_024079.5(ALG8):c.517A>G (p.Met173Val) rs146425128
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
NM_024079.5(ALG8):c.568T>G (p.Phe190Val) rs1860461907
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
NM_024079.5(ALG8):c.674-20A>C
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
NM_024079.5(ALG8):c.899-13A>T
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
NM_024079.5(ALG8):c.96-9T>G
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024079.5(ALG8):c.982G>A (p.Val328Ile) rs2136891638

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.