ClinVar Miner

List of variants in gene ALG3 reported as uncertain significance for ALG3-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00093
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00080
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721 0.00056
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys) rs2233469 0.00049
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_005787.6(ALG3):c.*152C>T rs186599528 0.00022
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe) rs574586606 0.00016
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_005787.6(ALG3):c.-26G>C rs747569137 0.00009
NM_005787.6(ALG3):c.1077G>A (p.Gln359=) rs534288406 0.00009
NM_005787.6(ALG3):c.578G>A (p.Arg193His) rs550144109 0.00009
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys) rs373887893 0.00008
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00007
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile) rs375976807 0.00007
NM_005787.6(ALG3):c.248A>G (p.Asn83Ser) rs199565095 0.00007
NM_005787.6(ALG3):c.457G>A (p.Val153Ile) rs200285629 0.00007
NM_005787.6(ALG3):c.13C>G (p.Leu5Val) rs369888932 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys) rs749229743 0.00005
NM_005787.5(ALG3):c.-31G>A rs758955754 0.00003
NM_005787.6(ALG3):c.*65C>T rs776636517 0.00003
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=) rs374164530 0.00003
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr) rs770095687 0.00003
NM_005787.6(ALG3):c.296+7G>A rs375026036 0.00003
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038 0.00003
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly) rs760439771 0.00003
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00003
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys) rs537211234 0.00003
NM_005787.6(ALG3):c.223A>G (p.Met75Val) rs961577496 0.00002
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys) rs763104840 0.00002
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile) rs1323127252 0.00001
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His) rs377073728 0.00001
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln) rs775068875 0.00001
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) rs1719101179 0.00001
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp) rs773227426 0.00001
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg) rs951598169 0.00001
NM_005787.6(ALG3):c.469A>G (p.Met157Val) rs1404929213 0.00001
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly) rs773806254 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys) rs528154210 0.00001
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly) rs751710887 0.00001
NM_005787.6(ALG3):c.863C>T (p.Ala288Val) rs772081381 0.00001
NM_005787.6(ALG3):c.890A>G (p.His297Arg) rs557190648 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys) rs1718953951 0.00001
NM_005787.6(ALG3):c.*108T>C rs1577100095
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro) rs2473859292
NM_005787.6(ALG3):c.1146C>T (p.His382=) rs370304622
NM_005787.6(ALG3):c.1156T>C (p.Leu386=) rs761215928
NM_005787.6(ALG3):c.11G>T (p.Gly4Val) rs1413710323
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp) rs933387419
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp) rs199587005
NM_005787.6(ALG3):c.199A>C (p.Thr67Pro) rs1719117803
NM_005787.6(ALG3):c.296+5G>A rs1719108178
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr) rs562487441
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) rs562487441
NM_005787.6(ALG3):c.41C>T (p.Ala14Val) rs767695697
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser) rs2473852750
NM_005787.6(ALG3):c.50C>G (p.Ala17Gly)
NM_005787.6(ALG3):c.50C>T (p.Ala17Val) rs776497657
NM_005787.6(ALG3):c.544C>T (p.Leu182Phe) rs1719066241
NM_005787.6(ALG3):c.545T>C (p.Leu182Pro) rs747561539
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe) rs1171334770
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe) rs776145295
NM_005787.6(ALG3):c.626T>C (p.Met209Thr) rs1553828467
NM_005787.6(ALG3):c.664CTC[1] (p.Leu223del) rs1399225021
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) rs2108440795
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg) rs1718985510
NM_005787.6(ALG3):c.812A>G (p.His271Arg) rs2108440706
NM_005787.6(ALG3):c.82G>C (p.Ala28Pro) rs750342592
NM_005787.6(ALG3):c.846G>A (p.Ala282=) rs370912574
NM_005787.6(ALG3):c.929A>G (p.His310Arg) rs2108440580
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn) rs2473849143
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) rs751758378
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) rs751758378

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.