ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by New York Genome Center

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.1603-509A>G rs115136012 0.00163
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_001367916.1(MAGT1):c.-3A>G rs781882781 0.00001
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr) rs768937191 0.00001
NM_006280.3(SSR4):c.194C>T (p.Ala65Val) rs781822476 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_024740.2(ALG9):c.535C>T (p.Leu179Phe) rs782147690 0.00001
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167

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