ClinVar Miner

List of variants in gene ALG13 reported as benign 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: 19
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HGVS dbSNP
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091
NM_001099922.3(ALG13):c.2248-4A>G rs370438099
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102
NM_001099922.3(ALG13):c.384-5C>T rs763318921

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