ClinVar Miner

List of variants in gene ALG12 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000022.10:g.(?_50297466)_(50301612_?)del
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480
NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) rs121907935
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)
NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro)
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992
NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) rs121907933
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118
NM_024105.4(ALG12):c.424T>G (p.Phe142Val) rs28942090
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) rs121907932
NM_024105.4(ALG12):c.469+4C>T
NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) rs121907934
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.930_931del (p.Arg311fs) rs1569174722
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654

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