ClinVar Miner

List of variants studied for ALG11-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_021645.6(UTP14C):c.254G>T (p.Gly85Val) rs3742289 0.63014
NM_021645.6(UTP14C):c.835C>T (p.Leu279=) rs3742291 0.56764
NM_021645.6(UTP14C):c.-22A>C rs3825528 0.40130
NM_021645.6(UTP14C):c.301A>G (p.Thr101Ala) rs3742290 0.10387
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802 0.03255
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245 0.01560
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) rs73184339 0.00421
NM_021645.6(UTP14C):c.-42G>A rs140978619 0.00414
NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu) rs144970453 0.00113
NM_021645.6(UTP14C):c.326T>A (p.Val109Asp) rs144752647 0.00095
NM_021645.6(UTP14C):c.-486-6T>C rs200751186 0.00078
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) rs148434423 0.00058
NM_001004127.2(ALG11):c.-23C>T rs201534348 0.00045
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805 0.00031
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911 0.00026
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) rs202195109 0.00021
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) rs201560109 0.00012
NM_021645.6(UTP14C):c.-67A>T rs771744248 0.00011
NM_021645.6(UTP14C):c.470T>G (p.Val157Gly) rs763915286 0.00007
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) rs144883776 0.00006
NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr) rs139798579 0.00006
NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp) rs184583544 0.00006
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) rs147711581 0.00004
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) rs746897177 0.00004
NM_021645.6(UTP14C):c.277G>A (p.Val93Ile) rs545278962 0.00004
NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser) rs201103979 0.00004
NM_021645.6(UTP14C):c.192T>C (p.Ser64=) rs137988059 0.00003
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) rs886050313 0.00001
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala) rs200978613 0.00001
NM_021645.6(UTP14C):c.276C>T (p.Pro92=) rs144836764 0.00001
NM_021645.6(UTP14C):c.575A>G (p.His192Arg) rs978706850 0.00001
NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe) rs775998263 0.00001
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) rs1954160784
NM_001004127.3(ALG11):c.190G>A (p.Val64Met) rs1419202736
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) rs771281050
NM_001004127.3(ALG11):c.526A>G (p.Met176Val) rs1268308514
NM_001004127.3(ALG11):c.75C>T (p.Leu25=) rs886050312
NM_001004127.3(ALG11):c.900A>T (p.Gly300=) rs376118160
NM_021645.6(UTP14C):c.-193G>T rs1954265263
NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn) rs886050314

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