ClinVar Miner

List of variants studied for ALG3-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_005787.6(ALG3):c.591T>C (p.Gly197=) rs2233464 0.04116
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
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.16C>A (p.Arg6=) rs199587005 0.00039
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327 0.00034
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_005787.6(ALG3):c.1176C>T (p.Ile392=) rs377091766 0.00010
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_005787.6(ALG3):c.477C>T (p.Cys159=) rs201087932 0.00008
NM_005787.6(ALG3):c.1215C>T (p.Ser405=) rs116621135 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.13C>G (p.Leu5Val) rs369888932 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.312C>T (p.Phe104=) rs767923381 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_005787.6(ALG3):c.549C>T (p.Phe183=) rs780507509 0.00004
NM_005787.6(ALG3):c.642C>T (p.Phe214=) rs545724911 0.00004
NM_005787.6(ALG3):c.1272G>A (p.Pro424=) rs372724502 0.00003
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr) rs770095687 0.00003
NM_005787.6(ALG3):c.444+1G>T rs748878963 0.00003
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038 0.00003
NM_005787.6(ALG3):c.1061G>A (p.Arg354His) rs546890576 0.00002
NM_005787.6(ALG3):c.1107C>T (p.Pro369=) rs753913644 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
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.165C>T (p.Gly55=) rs387906273 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.240C>T (p.Gly80=) rs756013928 0.00001
NM_005787.6(ALG3):c.294T>A (p.Leu98=) rs200538695 0.00001
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp) rs773227426 0.00001
NM_005787.6(ALG3):c.605+9C>T rs1177025121 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.690G>A (p.Gly230=) rs755828168 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.954G>A (p.Ser318=) rs372494174 0.00001
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys) rs1718953951 0.00001
NC_000003.11:g.(?_182733226)_(184094097_?)del
NM_005787.6(ALG3):c.1009+14T>G
NM_005787.6(ALG3):c.1014C>A (p.Ile338=)
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
NM_005787.6(ALG3):c.1060C>T (p.Arg354Cys)
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
NM_005787.6(ALG3):c.1170G>T (p.Gly390=) rs758528909
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.1242C>T (p.Ala414=)
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp) rs199587005
NM_005787.6(ALG3):c.18G>A (p.Arg6=) rs1239564678
NM_005787.6(ALG3):c.196+16G>A
NM_005787.6(ALG3):c.196+19del rs1260750286
NM_005787.6(ALG3):c.296+13A>C rs2108442309
NM_005787.6(ALG3):c.296+20T>C
NM_005787.6(ALG3):c.297-11T>C
NM_005787.6(ALG3):c.297-19A>G
NM_005787.6(ALG3):c.29_45dup (p.Gln16fs)
NM_005787.6(ALG3):c.2T>C (p.Met1Thr) rs773271124
NM_005787.6(ALG3):c.30G>C (p.Arg10=)
NM_005787.6(ALG3):c.321C>T (p.Ile107=) rs1436563177
NM_005787.6(ALG3):c.33C>A (p.Ser11=)
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
NM_005787.6(ALG3):c.445-17C>T
NM_005787.6(ALG3):c.445-19T>C
NM_005787.6(ALG3):c.456C>T (p.Phe152=)
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe) rs1171334770
NM_005787.6(ALG3):c.579C>T (p.Arg193=)
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)
NM_005787.6(ALG3):c.606-18C>T
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
NM_005787.6(ALG3):c.633G>A (p.Val211=) rs2108441361
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
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.888C>T (p.Ala296=)
NM_005787.6(ALG3):c.890A>G (p.His297Arg)
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
NM_005787.6(ALG3):c.929A>G (p.His310Arg) rs2108440580
NM_005787.6(ALG3):c.932+10G>A
NM_005787.6(ALG3):c.933-20_933-17del
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
NM_005787.6(ALG3):c.945T>C (p.Ser315=)

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