ClinVar Miner

List of variants in gene ALG12 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000022.10:g.(?_50297466)_(50301612_?)del
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)
NM_024105.4(ALG12):c.469+4C>T
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365
NM_024105.4(ALG12):c.652A>G (p.Ile218Val)
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540
NM_024105.4(ALG12):c.809G>A (p.Arg270His)
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser)
NM_024105.4(ALG12):c.863C>T (p.Thr288Met)
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829

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