ClinVar Miner

List of variants reported as uncertain significance for ALG11-congenital disorder of glycosylation by Invitae

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) rs115524395 0.00044
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_001004127.3(ALG11):c.1037G>A (p.Arg346His) rs144883776 0.00006
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) rs746897177 0.00004
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) rs765666509 0.00004
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) rs201067230 0.00003
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) rs748117240 0.00002
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) rs756365610 0.00001
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) rs765431074 0.00001
NC_000013.10:g.(?_52538988)_(52602746_?)dup
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.187A>T (p.Met63Leu) rs2140832522
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) rs1444016944
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) rs1363416785
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) rs1954216629
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) rs142637770
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) rs1593903383
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) rs2140840089

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