ClinVar Miner

List of variants reported as uncertain significance for Congenital disorder of glycosylation type 1K by Invitae

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Total variants: 7
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HGVS dbSNP
NM_001330504.1(ALG1):c.271G>T (p.Asp91Tyr)
NM_001330504.1(ALG1):c.433G>A (p.Glu145Lys)
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001330504.1(ALG1):c.547A>C (p.Ile183Leu) rs767003110
NM_001330504.1(ALG1):c.803T>G (p.Val268Gly) rs1555452573
NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) rs1051082443
NM_201400.4(EEF2KMT):c.*804G>A rs1047747

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