ClinVar Miner

List of variants reported as uncertain significance for SLC35A1-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006416.5(SLC35A1):c.1007G>A (p.Gly336Asp) rs200065902 0.00004
NM_006416.5(SLC35A1):c.1000G>A (p.Val334Ile) rs768492481 0.00001
NM_006416.5(SLC35A1):c.171G>T (p.Leu57Phe) rs76193993 0.00001
NM_006416.5(SLC35A1):c.569T>C (p.Phe190Ser) rs763621828 0.00001
NM_006416.5(SLC35A1):c.475C>T (p.Gln159Ter)
NM_006416.5(SLC35A1):c.523TTA[1] (p.Leu176del)
NM_006416.5(SLC35A1):c.639G>A (p.Met213Ile)
NM_006416.5(SLC35A1):c.699T>G (p.Ile233Met) rs150233994
NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro) rs1484245900
NM_006416.5(SLC35A1):c.763G>C (p.Val255Leu) rs550275644
NM_006416.5(SLC35A1):c.7G>A (p.Ala3Thr)
NM_006416.5(SLC35A1):c.855T>G (p.Ile285Met)
NM_006416.5(SLC35A1):c.883A>C (p.Ile295Leu) rs2127977717
NM_006416.5(SLC35A1):c.908C>G (p.Thr303Ser) rs2127978566

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