ClinVar Miner

List of variants in gene ALG6 reported as pathogenic for Congenital disorder of glycosylation type 1C

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Total variants: 10
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NM_013339.4(ALG6):c.1432T>C (p.Ser478Pro) rs121908444
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
NM_013339.4(ALG6):c.167+5G>A rs1557585860
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.680+2T>G rs868768232
NM_013339.4(ALG6):c.894_896AAT[1] (p.Ile299del) rs387906338
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443
NM_013339.4(ALG6):c.999dup (p.Leu334fs)

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