ClinVar Miner

List of variants reported as likely pathogenic for Congenital disorder of glycosylation type 1C

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Total variants: 20
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HGVS dbSNP
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
NM_013339.4(ALG6):c.1128-2A>C rs1553156882
NM_013339.4(ALG6):c.1136del (p.Pro379fs) rs1553156884
NM_013339.4(ALG6):c.1167del (p.Ser390fs) rs769698652
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs) rs1553156894
NM_013339.4(ALG6):c.1194dup (p.Ile399fs) rs1207096732
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr) rs762643273
NM_013339.4(ALG6):c.257+2dup rs745426479
NM_013339.4(ALG6):c.2T>C (p.Met1Thr) rs1387214955
NM_013339.4(ALG6):c.429+1G>T rs781097055
NM_013339.4(ALG6):c.430-2A>G rs1553155565
NM_013339.4(ALG6):c.495-2A>G rs1227131990
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs) rs1553153399
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs) rs1553155823
NM_013339.4(ALG6):c.82_82+8del rs1424742651
NM_013339.4(ALG6):c.902+1G>A

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