ClinVar Miner

List of variants in gene combination ALG11, UTP14C reported as uncertain significance for ALG11-congenital disorder of glycosylation

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) rs73184339 0.00421
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.1160A>C (p.Glu387Ala) rs115524395 0.00044
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_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_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.1036C>T (p.Arg346Cys)
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) rs757069433
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) rs750430228
NM_021645.6(UTP14C):c.-193G>T rs1954265263
NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)
NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn) rs886050314

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