ClinVar Miner

List of variants studied for congenital disorder of glycosylation, type ICC

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_001367916.1(MAGT1):c.-20T>C rs781800228 0.00004
NM_001367916.1(MAGT1):c.-3A>G rs781882781 0.00001
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
NM_001367916.1(MAGT1):c.628A>G (p.Met210Val)
NM_001367916.1(MAGT1):c.752C>T (p.Thr251Met)
NM_001367916.1(MAGT1):c.826+16A>C
NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter) rs1569547876
NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn) rs373260156

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