ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type 1K by Invitae

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Total variants: 16
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HGVS dbSNP
NC_000016.9:g.(?_5130947)_(5147740_?)del
NM_001330504.1(ALG1):c.-30C>T rs780107088
NM_001330504.1(ALG1):c.271G>T (p.Asp91Tyr)
NM_001330504.1(ALG1):c.433G>A (p.Glu145Lys)
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.493C>T (p.Arg165Trp) rs151173406
NM_001330504.1(ALG1):c.494G>A (p.Arg165Gln) rs201975029
NM_001330504.1(ALG1):c.507G>C (p.Leu169=) rs12921879
NM_001330504.1(ALG1):c.530-2A>G rs768733117
NM_001330504.1(ALG1):c.547A>C (p.Ile183Leu) rs767003110
NM_001330504.1(ALG1):c.803T>G (p.Val268Gly) rs1555452573
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001330504.1(ALG1):c.917_918insTG (p.Ala307fs) rs746019074
NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) rs1051082443
NM_019109.5(ALG1):c.1063del (p.Leu355fs)
NM_201400.4(EEF2KMT):c.*804G>A rs1047747

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