ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
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.606-8C>T rs368253820 0.00014
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_005787.5(ALG3):c.-26G>C rs747569137 0.00008
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.13C>G (p.Leu5Val) rs369888932 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.578G>A (p.Arg193His) rs550144109 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.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.606-10C>T rs372141050 0.00002
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile) rs1323127252 0.00001
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 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.223A>G (p.Met75Val) rs961577496 0.00001
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp) rs773227426 0.00001
NM_005787.6(ALG3):c.41C>T (p.Ala14Val) rs767695697 0.00001
NM_005787.6(ALG3):c.469A>G (p.Met157Val) rs1404929213 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.863C>T (p.Ala288Val) rs772081381 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.1014C>A (p.Ile338=)
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
NM_005787.6(ALG3):c.1077G>A (p.Gln359=) rs534288406
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
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.1188G>A (p.Trp396Ter)
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)
NM_005787.6(ALG3):c.11G>T (p.Gly4Val)
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp) rs199587005
NM_005787.6(ALG3):c.296+5G>A rs1719108178
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) rs1719101179
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) rs562487441
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
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)
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
NM_005787.6(ALG3):c.626T>C (p.Met209Thr) rs1553828467
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
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.799C>A (p.Gln267Lys) rs528154210
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)
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.890A>G (p.His297Arg)
NM_005787.6(ALG3):c.929A>G (p.His310Arg) rs2108440580
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) rs751758378
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) rs751758378

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